(used for variant description)
(last modified January 17, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_207111.3 in the RNF216 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering RNF216 transcript NM_207111.3.
(upstream sequence)
. g.5019
agtgcctctatggttcttc c.-241
. . . . . . g.5079
ctgtccttagtcgggagggggcgctgtgcgcaggcgcgaggtgacgccgcggcagggccg c.-181
. . . . . . g.5139
gaaggagtgcagcggctgccacggagctcgcagctgcggcttctgaggagtaagcggcgc c.-121
. . . . . . | 02 g.25601
ggtagcgaaggccgccgaacctgcctggctagccggcgacttgagtgacga | ttcttttga c.-61
. . . . . . g.25661
aacagatggtcaccatgtttagatattagcagtcccatatatgcatgtctgcatttgaaa c.-1
. . . . . . g.25721
ATGGAAGAGGGAAACAACAATGAAGAGGTAATTCACTTGAACAACTTTCACTGCCATCGG c.60
M E E G N N N E E V I H L N N F H C H R p.20
| 03. . . . . . g.33804
GGACAAG | AGTGGATCAATCTCCGAGATGGGCCCATCACCATATCTGACTCCTCAGATGAG c.120
G Q E | W I N L R D G P I T I S D S S D E p.40
. . . . . . g.33864
GAAAGGATTCCAATGCTGGTCACCCCAGCTCCTCAGCAGCATGAAGAAGAGGACCTGGAT c.180
E R I P M L V T P A P Q Q H E E E D L D p.60
. . | 04 . . . . g.44954
GATGATGTCATCCTGACAGAA | ACAAATAAACCTCAGAGATCACGACCCAATCTCATCAAA c.240
D D V I L T E | T N K P Q R S R P N L I K p.80
. . . . . . g.45014
CCAGCTGCCCAGTGGCAAGATCTGAAAAGGTTGGGAGAAGAAAGGCCTAAAAAGTCTAGA c.300
P A A Q W Q D L K R L G E E R P K K S R p.100
. . . . . . g.45074
GCAGCATTTGAATCAGATAAGAGCAGCTATTTTTCAGTGTGTAACAACCCATTGTTTGAT c.360
A A F E S D K S S Y F S V C N N P L F D p.120
. . . . . . g.45134
TCTGGGGCACAGGATGATTCTGAGGATGACTACGGTGAATTTCTGGATCTTGGGCCTCCT c.420
S G A Q D D S E D D Y G E F L D L G P P p.140
. . . . . . g.45194
GGAATCTCTGAATTCACTAAGCCAAGTGGCCAAACAGAAAGAGAACCCAAGCCTGGACCG c.480
G I S E F T K P S G Q T E R E P K P G P p.160
. . . . . . g.45254
AGTCATAACCAAGCAGCAAATGACATTGTCAACCCCAGATCAGAGCAGAAAGTCATCATC c.540
S H N Q A A N D I V N P R S E Q K V I I p.180
. . . . . . g.45314
TTGGAAGAAGGTAGCCTTCTTTACACAGAAAGCGATCCTTTGGAAACTCAGAACCAGTCA c.600
L E E G S L L Y T E S D P L E T Q N Q S p.200
. . . . . . g.45374
TCCGAAGACTCAGAGACAGAGCTGTTATCAAATCTAGGAGAGTCAGCTGCTCTAGCAGAT c.660
S E D S E T E L L S N L G E S A A L A D p.220
. . . . . . g.45434
GATCAGGCCATCGAAGAAGACTGCTGGTTAGATCATCCTTACTTCCAGTCTCTGAACCAA c.720
D Q A I E E D C W L D H P Y F Q S L N Q p.240
. . . . . . g.45494
CAGCCCCGTGAAATAACAAACCAGGTCGTTCCTCAGGAACGGCAGCCTGAAGCAGAACTG c.780
Q P R E I T N Q V V P Q E R Q P E A E L p.260
. . . . . . g.45554
GGCCGCTTGTTGTTTCAGCATGAATTCCCAGGGCCCGCTTTTCCAAGGCCGGAACCCCAG c.840
G R L L F Q H E F P G P A F P R P E P Q p.280
. . . . . . g.45614
CAAGGTGGGATTTCAGGCCCCTCTTCTCCTCAGCCTGCCCATCCTCTAGGAGAGTTTGAA c.900
Q G G I S G P S S P Q P A H P L G E F E p.300
. . . . . . g.45674
GACCAGCAGTTAGCAAGTGATGATGAAGAGCCAGGTCCAGCCTTTCCAATGCAAGAATCT c.960
D Q Q L A S D D E E P G P A F P M Q E S p.320
. . . . . . g.45734
CAAGAGCCCAATTTGGAAAACATTTGGGGGCAAGAAGCTGCAGAGGTAGATCAAGAGCTC c.1020
Q E P N L E N I W G Q E A A E V D Q E L p.340
. . | 05 . . . . g.47414
GTTGAACTACTAGTGAAAGAAACG | GAAGCAAGATTTCCAGATGTAGCAAATGGGTTTATT c.1080
V E L L V K E T | E A R F P D V A N G F I p.360
. . . . | 06 . . g.55932
GAGGAAATAATTCATTTTAAGAATTATTATGATCTGAATGT | ACTTTGTAATTTTCTTCTG c.1140
E E I I H F K N Y Y D L N V | L C N F L L p.380
. . . . . . g.55992
GAAAACCCAGATTATCCAAAGAGAGAAGACAGAATCATTATAAATCCCAGTAGCAGTCTG c.1200
E N P D Y P K R E D R I I I N P S S S L p.400
. . | 07 . . . . g.57170
CTGGCCAGCCAAGATGAGACAAAG | TTGCCTAAAATAGACTTTTTTGACTATTCTAAATTG c.1260
L A S Q D E T K | L P K I D F F D Y S K L p.420
. . . . . . g.57230
ACCCCTCTTGACCAGCGCTGCTTCATCCAAGCTGCTGACCTCCTCATGGCCGACTTCAAA c.1320
T P L D Q R C F I Q A A D L L M A D F K p.440
. . . . . . g.57290
GTGCTCAGTAGTCAGGACATCAAGTGGGCCCTGCACGAGCTCAAAGGACACTATGCAATC c.1380
V L S S Q D I K W A L H E L K G H Y A I p.460
| 08 . . . . . g.61343
ACCCGAAAG | GCCTTGTCTGATGCCATTAAAAAATGGCAGGAGCTGTCACCAGAAACCAGT c.1440
T R K | A L S D A I K K W Q E L S P E T S p.480
. . . . . . g.61403
GGAAAAAGGAAGAAGAGAAAACAAATGAACCAGTATTCTTACATTGATTTCAAGTTTGAA c.1500
G K R K K R K Q M N Q Y S Y I D F K F E p.500
| 09 . . . . . . g.65614
CAAG | GTGACATAAAAATAGAAAAGAGGATGTTCTTTCTTGAAAATAAGCGACGACATTGT c.1560
Q G | D I K I E K R M F F L E N K R R H C p.520
. . . . . . g.65674
AGGTCCTATGACCGACGTGCTCTCCTTCCAGCTGTGCAACAAGAGCAGGAGTTCTATGAG c.1620
R S Y D R R A L L P A V Q Q E Q E F Y E p.540
. . | 10 . . . . g.70000
CAGAAAATCAAAGAGATGGCAGAG | CATGAAGACTTTTTGCTTGCCCTACAGATGAATGAA c.1680
Q K I K E M A E | H E D F L L A L Q M N E p.560
. | 11 . . . . . g.71585
GAACAGTATCAAAAG | GATGGCCAGCTGATTGAGTGTCGCTGCTGCTATGGGGAATTTCCA c.1740
E Q Y Q K | D G Q L I E C R C C Y G E F P p.580
. . . . . . g.71645
TTCGAGGAGCTGACGCAGTGCGCAGATGCTCACTTGTTCTGCAAAGAGTGTCTCATCAGA c.1800
F E E L T Q C A D A H L F C K E C L I R p.600
. . . | 12 . . . g.73894
TATGCCCAAGAGGCAGTCTTTGGATCTGGAAAG | TTGGAGCTCAGCTGCATGGAAGGCAGC c.1860
Y A Q E A V F G S G K | L E L S C M E G S p.620
. . . . . . g.73954
TGCACGTGTTCGTTCCCAACCAGTGAGCTGGAGAAGGTGCTCCCCCAGACCATCCTGTAT c.1920
C T C S F P T S E L E K V L P Q T I L Y p.640
. . . . . . g.74014
AAGTACTATGAGCGAAAAGCCGAGGAGGAGGTTGCGGCAGCCTACGCCGACGAGCTTGTC c.1980
K Y Y E R K A E E E V A A A Y A D E L V p.660
| 13 . . . . . . g.74949
AG | GTGCCCGTCCTGTAGCTTTCCGGCTCTGTTGGACAGTGATGTGAAGAGGTTCAGCTGT c.2040
R | C P S C S F P A L L D S D V K R F S C p.680
. . | 14 . . . . g.134259
CCTAATCCTCACTGCCGAAAG | GAAACCTGTAGGAAGTGTCAGGGACTCTGGAAAGAACAT c.2100
P N P H C R K | E T C R K C Q G L W K E H p.700
. . . . . | 15 g.145355
AATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT | T c.2160
N G L T C E E L A E K D D I K Y R T S I | p.720
. . . . . . g.145415
GAAGAAAAAATGACTGCTGCCCGCATTAGAAAATGCCACAAGTGTGGGACTGGCCTCATC c.2220
E E K M T A A R I R K C H K C G T G L I p.740
. . . . . . g.145475
AAATCTGAAGGCTGCAACCGCATGTCTTGCCGCTGTGGTGCCCAGATGTGCTACCTCTGT c.2280
K S E G C N R M S C R C G A Q M C Y L C p.760
. . . . . . g.145535
CGAGTTTCTATTAATGGATATGACCATTTCTGCCAACATCCCCGCTCACCAGGAGCCCCT c.2340
R V S I N G Y D H F C Q H P R S P G A P p.780
. . . . | 16 . . g.162623
TGCCAGGAGTGTTCAAGATGCTCTCTCTGGACCGATCCCACT | GAAGATGATGAGAAGCTT c.2400
C Q E C S R C S L W T D P T | E D D E K L p.800
. . . . . | 17 . g.163559
ATTGAGGAAATCCAGAAGGAGGCTGAAGAGGAACAGAAAAGAAAGAATGGAG | AGAACACC c.2460
I E E I Q K E A E E E Q K R K N G E | N T p.820
. . . . . . g.163619
TTCAAACGCATTGGACCCCCGCTGGAGAAGCCTGTGGAGAAGGTGCAGAGGGTGGAGGCC c.2520
F K R I G P P L E K P V E K V Q R V E A p.840
. . . . . . g.163679
CTCCCGAGGCCCGTTCCGCAGAACCTGCCACAGCCACAGATGCCACCCTATGCCTTCGCG c.2580
L P R P V P Q N L P Q P Q M P P Y A F A p.860
. . . . . . g.163739
CACCCACCCTTCCCCCTGCCTCCCGTGCGGCCTGTGTTCAACAACTTCCCACTCAACATG c.2640
H P P F P L P P V R P V F N N F P L N M p.880
. . . . . . g.163799
GGGCCTATCCCAGCCCCGTACGTGCCCCCTCTGCCCAACGTGCGGGTCAACTATGACTTC c.2700
G P I P A P Y V P P L P N V R V N Y D F p.900
. . . . . . g.163859
GGTCCCATCCACATGCCCCTGGAGCACAACCTGCCCATGCACTTTGGCCCCCAGCCGCGG c.2760
G P I H M P L E H N L P M H F G P Q P R p.920
. g.163871
CATCGCTTCTGA c.2772
H R F X p.923
. . . . . . g.163931
tggccccgaatccccattgagcagcacaaagcccgtttggggtaggagtgtggatggaga c.*60
. . . . . . g.163991
accctcccccaaggctggtgtctgtaccattgcatcctaagtcagcttgaagggtaggct c.*120
. . . . . . g.164051
ggttttcttcccacccctttcctagaagggctactgctcctggaagagtggacggatcca c.*180
. . . . . . g.164111
taataaagacgtcccaaatggtggagttcggagagagctgcgatgtgaactgcccctccc c.*240
. . . . . . g.164171
ctcgcatcccccaggccaccaacggcagtccttctgccttgtccatggcataggccatag c.*300
. . . . . . g.164231
accaggtccctgctgctcacacctgggcctctcctcggagccgacccctgggtagcaagg c.*360
. . . . . . g.164291
cagccgagagcatctccctggaggggcccacggttgggccaagggcagagggggctgcac c.*420
. . . . . . g.164351
ctgcgggcctgggaagcattgctcagggtggggggctgggaccatggcccgcagaggcac c.*480
. . . . . . g.164411
tgccacagctgtgagggccaagatgctgtccccccatccaaaacccgtgcgccactgcag c.*540
. . . . . . g.164471
tgagtgttgagggcacctctcctcccctcttacacctactcagatgaggcagcagcagac c.*600
. . . . . . g.164531
ccatctcgcggcgggggttttgttctgttgccgcctaactttctcatcctcggtctctgg c.*660
. . . . . . g.164591
aaagtcaggctgagaaatcctttcccaggccaggccgctgcggtacactggatggttctg c.*720
. . . . . . g.164651
aagctggcccattgaaagagcctcttaaggcagctgggacagaggcctggtggccctgct c.*780
. . . . . . g.164711
gggcagcccaactgctgggggagacgtttctgccaccctgggtgatgagcagcttttccc c.*840
. . . . . . g.164771
ccctggctttctgggggaggagtgggcctccttagggagacaggtgaccctgggtgccac c.*900
. . . . . . g.164831
ccctgccccgtgtgtgccccgggtgttctcagtggttgctgaaggcaggtagagggtgct c.*960
. . . . . . g.164891
gtccagtatcccccatgtgaaggtcacttcccttctcatggagtcagctgagcatcagct c.*1020
. . . . . . g.164951
cagccctgccatgtccccactcaccctcctcgcctcctgtccggccctgggtttctagcg c.*1080
. . . . . . g.165011
gtgcctgaggcatcactctggcccattgacagatgagaggtctgaagccttcctggccac c.*1140
. . . . . . g.165071
aggcatcactttctcctcctcctcatgccctgccttgtccttgtcgtgttgccatggggt c.*1200
. . . . . . g.165131
tctgagaggctgggagttcacagacctcagacacagctgagtccgacaaccattggggtg c.*1260
. . . . . . g.165191
gggctgcatcagtctccggagtggcccgccacctcctgaagcagggcctggcccacccaa c.*1320
. . . . . . g.165251
ggtgcctggggcaggcgggcaccgtcattcgctgccattggcttctcagatgtatttcaa c.*1380
. . . . . . g.165311
ggactaaagtgggctctaagatctaagatggcccggcgcggtggctcccgcctgtaatcc c.*1440
. . . . . . g.165371
cagcactttgggaggccgaggcgggcggatgagttgaggtcgggagtttgagtccccgtc c.*1500
. . . . . . g.165431
tctactaaaaatacaaaattagccggacaaggtggcgcatgcctataatcccaggtactc c.*1560
. . . . . . g.165491
aggaggctgaggcaggagaatcacttgaacctgggaggcagaggttgcagtgagccaaga c.*1620
. . . . . . g.165551
ttgtgccactgcactccagcctgagcaacaaaagcaaaactctatctttaaaaaaaaaaa c.*1680
. . . . . . g.165611
aaaaaaaactaagatacccattctttctgcctttgcccaggatggaggctttgaagacag c.*1740
. . . . . . g.165671
gtggtcacctggacctggggtaagggtgcgcagggaggccgggcttgggggcagcctgct c.*1800
. . . . . . g.165731
gctatgtccttgctggcgcccatacctgttggactgcctgaactttgctactagcctgaa c.*1860
. . . . . . g.165791
cgacagtgccttggaaaggcaggctccatgcggcagcaacaggattgtcttcggtacctt c.*1920
. . . . . . g.165851
aaatatgctccctgtgcttccccagggaggatctctgggagcagagggcggctgtagaca c.*1980
. . . . . . g.165911
tcacagctgaagaggtgacctcaggccctgggagcctcagctccctctgccctgtaccct c.*2040
. . . . . . g.165971
aggcacgtggctccagcaagagccccaggcaggacaaagggagcaggcagcagctgcaga c.*2100
. . . . . . g.166031
aacagccctagacaggtgctggcctcaaccctggcaggggagggggagcccagagtgatg c.*2160
. . . . . . g.166091
tttctcctaaggccaaaccccaggggtgggtcatttgagaggagttccagctgttctggc c.*2220
. . . . . . g.166151
cacactgggctggtggggaaggagcggcggcctctttccttggagggtccctgattcctg c.*2280
. . . . . . g.166211
aggatcctccccgagccaggcacgggggaccacagggctgccgtgagcacccaccctggt c.*2340
. . . . . . g.166271
tctccaggcccctctgtccagaggcagggcctgaacctcgggctcctgcctggaccagtg c.*2400
. . . . . . g.166331
acagcattggggagagaagcactgggggtcttcagaccagccagcaaggggccgtgccag c.*2460
. . . . . . g.166391
tgcccagagagcaggtcagacaacaggcaaccctgaggcagctggctccctctctctgcc c.*2520
. . . . . . g.166451
ctgcagggcttgccgcagggcgtgaggctccccagccacagccccctcttacttgcctta c.*2580
. . . . . . g.166511
aaactggagagaggaatctagtatttgcacttagcaaaatatttaaaaactgaaaaaaat c.*2640
. . . . . . g.166571
gtgcatgatctgtcactttgtataaaaacaagaaacgattagttcattaaactttttctt c.*2700
. . . . . . g.166631
taccttctggtagtaaaaatagataaaataattccgtttcaactactgtgtgtaaaaagc c.*2760
. . . . . g.166690
ctgtatcatatgtaactgggacttttgtaaataaatgtttgtgcgctctgctccctcca c.*2819
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 28
©2004-2023 Leiden University Medical Center