(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_021998.4 in the ZNF711 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012535.1, covering ZNF711 transcript NM_021998.4.
(upstream sequence)
. . . . g.5047
agacgcagagtagattgtgattggctcgggctgcggaacctcggaaa c.-301
. . . . . . g.5107
cccgaatgtgaggaccttaagggatccacagctgccgccccccgcagccatccagagcgc c.-241
. . . . . . g.5167
ggtcacagtccgactggcggcacggaggcggcggcggcggcggcggcggcagcggcggcg c.-181
. . . . | 02 . . g.6938
gcagcggcggcggcagctgtagctgcagcagcag | gtaaagagagcgttttcccaaagaaa c.-121
. . . . . . g.6998
ataacatagcacagaaggaaaaataaaaagaaattgctgcagattttactttatgtgaga c.-61
. . . . | 03 . . g.8582
aaatctacaatttcttcgagacactcatataaag | atattggtgaatgaactttgctaagt c.-1
. . . . . . g.8642
ATGGATTCAGGCGGTGGAAGTCTTGGATTGCACACGCCAGACTCTAGAATGGCCCATACC c.60
M D S G G G S L G L H T P D S R M A H T p.20
. | 04 . . . . g.16309
ATGATTATGCAAGATTTTG | TGGCTGGAATGGCTGGTACTGCACATATCGATGGAGACCAT c.120
M I M Q D F V | A G M A G T A H I D G D H p.40
. . . . . . g.16369
ATTGTTGTTTCAGTTCCTGAAGCTGTTTTAGTTTCTGATGTTGTCACAGATGATGGGATA c.180
I V V S V P E A V L V S D V V T D D G I p.60
. . . . . . g.16429
ACTCTTGATCATGGCCTTGCAGCTGAAGTTGTCCATGGACCTGATATCATCACAGAGACT c.240
T L D H G L A A E V V H G P D I I T E T p.80
. . . . . . g.16489
GATGTAGTAACAGAAGGTGTGATTGTTCCTGAAGCGGTACTTGAAGCTGATGTTGCCATT c.300
D V V T E G V I V P E A V L E A D V A I p.100
. . . . . . g.16549
GAAGAGGATTTAGAGGAAGATGATGGTGATCACATCTTGACTTCTGAACTAATTACAGAA c.360
E E D L E E D D G D H I L T S E L I T E p.120
. . . . . . g.16609
ACCGTTAGGGTACCAGAGCAGGTTTTCGTGGCTGACCTTGTTACTGGTCCTAATGGACAC c.420
T V R V P E Q V F V A D L V T G P N G H p.140
. . . . . . g.16669
TTAGAACATGTGGTCCAAGATTGTGTTTCAGGAGTCGACTCTCCCACAATGGTATCAGAG c.480
L E H V V Q D C V S G V D S P T M V S E p.160
. . . . . . g.16729
GAGGTTCTTGTAACTAATTCAGATACAGAAACTGTGATTCAAGCAGCTGGAGGTGTTCCT c.540
E V L V T N S D T E T V I Q A A G G V P p.180
. . . . . . g.16789
GGTTCTACAGTTACTATAAAAACCGAAGATGATGATGATGATGATGTCAAGAGCACTTCT c.600
G S T V T I K T E D D D D D D V K S T S p.200
. . | 05 . . . . g.25322
GAAGACTACTTAATGATATCTT | TGGATGATGTTGGAGAAAAATTAGAGCATATGGGGAAT c.660
E D Y L M I S L | D D V G E K L E H M G N p.220
. . . . . . g.25382
ACACCATTAAAAATTGGCAGTGATGGTTCACAAGAAGATGCTAAAGAAGATGGGTTTGGT c.720
T P L K I G S D G S Q E D A K E D G F G p.240
. . . . . | 06 g.26129
TCTGAAGTTATAAAAGTGTATATATTTAAAGCGGAGGCTGAAGATGATGTTGAAATAG | GT c.780
S E V I K V Y I F K A E A E D D V E I G | p.260
. . . . . . g.26189
GGAACAGAAATTGTCACAGAGAGTGAGTACACCAGTGGACATTCAGTAGCTGGAGTGCTT c.840
G T E I V T E S E Y T S G H S V A G V L p.280
. . . . . . g.26249
GACCAGAGCCGAATGCAGCGGGAGAAGATGGTTTACATGGCAGTTAAAGATTCTTCTCAA c.900
D Q S R M Q R E K M V Y M A V K D S S Q p.300
. | 07 . . . . . g.29347
GAAGAAGATGATATCA | GAGATGAAAGAAGAGTTTCCCGAAGGTATGAAGATTGTCAAGCA c.960
E E D D I R | D E R R V S R R Y E D C Q A p.320
| 08 . . . . . . g.31068
TCAG | GAAATACTTTGGACTCAGCATTAGAAAGCAGAAGTAGTACAGCAGCACAGTACCTT c.1020
S G | N T L D S A L E S R S S T A A Q Y L p.340
. . . . . . g.31128
CAAATTTGTGACGGCATTAATACAAATAAAGTACTTAAACAAAAAGCCAAAAAGAGGAGA c.1080
Q I C D G I N T N K V L K Q K A K K R R p.360
. . | 09 . . . g.31692
AGGGGAGAAACCAGGCAGTGGCAAACAG | CTGTTATAATAGGTCCTGATGGACAGCCCCTC c.1140
R G E T R Q W Q T A | V I I G P D G Q P L p.380
. . . . . . g.31752
ACAGTGTACCCTTGCCATATTTGCACAAAAAAGTTTAAATCCAGGGGATTCTTAAAAAGA c.1200
T V Y P C H I C T K K F K S R G F L K R p.400
. . . . . . g.31812
CACATGAAGAATCATCCTGATCATTTAATGAGAAAAAAATATCAGTGTACAGATTGTGAC c.1260
H M K N H P D H L M R K K Y Q C T D C D p.420
. . . . . . g.31872
TTTACAACTAACAAGAAAGTGAGTTTCCATAACCACTTAGAAAGCCATAAGCTCATAAAC c.1320
F T T N K K V S F H N H L E S H K L I N p.440
. . . . . . g.31932
AAAGTCGACAAAACCCATGAATTTACAGAATACACACGAAGATACAGAGAGGCTAGTCCA c.1380
K V D K T H E F T E Y T R R Y R E A S P p.460
. . . . . . g.31992
CTGAGTTCCAATAAACTTATTTTAAGAGACAAGGAGCCGAAGATGCACAAGTGCAAATAC c.1440
L S S N K L I L R D K E P K M H K C K Y p.480
. . . . . . g.32052
TGTGACTATGAAACTGCAGAACAAGGACTGTTAAACAGGCATTTGTTGGCCGTTCACAGC c.1500
C D Y E T A E Q G L L N R H L L A V H S p.500
. . . . . . g.32112
AAGAATTTTCCTCATGTTTGTGTTGAGTGTGGGAAGGGTTTTCGACATCCTTCTGAACTC c.1560
K N F P H V C V E C G K G F R H P S E L p.520
. . . . . . g.32172
AAGAAACATATGAGAACCCATACTGGTGAGAAGCCATATCAGTGTCAGTATTGTATTTTC c.1620
K K H M R T H T G E K P Y Q C Q Y C I F p.540
. . . . . . g.32232
AGGTGTGCAGATCAATCAAATCTGAAAACTCACATTAAGTCTAAACATGGTAACAATTTG c.1680
R C A D Q S N L K T H I K S K H G N N L p.560
. . . . . . g.32292
CCATATAAATGTGAGCATTGTCCCCAAGCATTTGGTGATGAGAGGGAGCTTCAACGCCAT c.1740
P Y K C E H C P Q A F G D E R E L Q R H p.580
. . . . . . g.32352
CTGGATTTGTTTCAAGGACATAAGACACACCAGTGTCCTCATTGTGACCATAAGAGCACC c.1800
L D L F Q G H K T H Q C P H C D H K S T p.600
. . . . . . g.32412
AATTCAAGTGACCTTAAGCGGCACATCATATCTGTCCATACTAAGGATTTTCCTCACAAA c.1860
N S S D L K R H I I S V H T K D F P H K p.620
. . . . . . g.32472
TGTGAGGTCTGTGATAAAGGTTTTCATCGTCCTTCTGAGCTCAAAAAGCATAGTGATATC c.1920
C E V C D K G F H R P S E L K K H S D I p.640
. . . . . . g.32532
CATAAGGGTAGGAAGATTCATCAGTGCAGGCACTGTGACTTTAAAACATCCGATCCATTT c.1980
H K G R K I H Q C R H C D F K T S D P F p.660
. . . . . . g.32592
ATTCTTAGTGGCCATATCCTTTCAGTTCATACTAAAGATCAGCCATTGAAATGTAAAAGG c.2040
I L S G H I L S V H T K D Q P L K C K R p.680
. . . . . . g.32652
TGCAAGAGAGGATTCAGACAACAAAATGAGCTAAAAAAACATATGAAGACCCATACTGGA c.2100
C K R G F R Q Q N E L K K H M K T H T G p.700
. . . . . . g.32712
AGGAAGATTTACCAATGTGAGTATTGTGAATACAGCACTACAGATGCATCTGGCTTTAAA c.2160
R K I Y Q C E Y C E Y S T T D A S G F K p.720
. . . . . . g.32772
CGACATGTGATATCAATACATACAAAAGACTATCCACACAGGTGTGAATTCTGCAAGAAG c.2220
R H V I S I H T K D Y P H R C E F C K K p.740
. . . . . . g.32832
GGATTCCGAAGACCATCAGAAAAAAATCAGCATATTATGAGGCACCACAAAGAGGCTCTT c.2280
G F R R P S E K N Q H I M R H H K E A L p.760
g.32838
ATGTAA c.2286
M X p.761
. . . . . . g.32898
taagatcaatataaagaaagaagctatttaggagatatgatatgctacttgggagaaaac c.*60
. . . . . . g.32958
tctcactaactgtctcaccgggtttcaaagcttgatactaaaccatgactttacattctt c.*120
. . . . . . g.33018
tgtattaaagatcttaaaatatttgaattcacaggggatcccatagccctttgaaaatta c.*180
. . . . . . g.33078
cttaaagaatttaagaagcactatagaatggttacagaaaaacttcttaagtatctgtgt c.*240
. . . . . . g.33138
aatagtattatatgcatacttaaactacagaggggaaaagcaaagacaaatactttattt c.*300
. . . . . . g.33198
ggctgattatgttagatacaaatgtttctgagaagagaatacataattgagtttagtgat c.*360
. . . . . . g.33258
gctttgctatagcaagcaaacccacttttatgcaattttagaaatggggcagggaaacaa c.*420
. . . . . . g.33318
aatgtggtcattcatcagtcacttagtcattgagccttttatattgtacctggaaattaa c.*480
. . . . . . g.33378
attccagcaatgacaaaagttttgtgtattcattaaaagaaaactaactggaaaacaggt c.*540
. . . . . . g.33438
tagattaattcagtactattaaaaaagaattcagagctgttaatattttatcacaggata c.*600
. . . . . . g.33498
ggatacttaaaatatagcattctgtgctgagatctaaggtgaagtctataaagattaaag c.*660
. . . . . . g.33558
ttcccttttttctgatgttcaagttgattgttgttcagtatggcatatatgacaaaagta c.*720
. . . . . . g.33618
tatttgagtcaaatgtggctttctaaaatggatgcaacattagcgttgcaaacaaaatca c.*780
. . . . . . g.33678
gcactatatttcttaatgatctaaagattaatttgagagaacacagttttcttaaatatt c.*840
. . . . . . g.33738
ataatgtctagagtttttttaggacagtcttagcaagtatgattgttctagtcttacttg c.*900
. . . . . . g.33798
ctctaatgtttaaaggtgcaattttatgccattattgaaattgatttttaaaatctatat c.*960
. . . . . . g.33858
accatatgattaacatgcattttcaatatgaggcagtgtttatgcagtatttaacagagc c.*1020
. . . . . . g.33918
aatctgctgccaatagagtttggaggtggatatttagtttacagtgtataaacttaaaat c.*1080
. . . . . . g.33978
atgcatccctttaacaacgctttgtgttagcatgctgcaaatcaaaatggcacttaatat c.*1140
. . . . . . g.34038
taaaagctggtttagggaaattttatgaaaatcctgttcataaatgtaatgcatatgata c.*1200
. . . . . . g.34098
tgtacttttaagttttagttgcttcatgtttacattcagctgttcaacataattaaaatg c.*1260
. . . . . . g.34158
taattttacttcatgctatattgtggctttgtgtttcaaataatgttcacctttctgttt c.*1320
. . . . . . g.34218
ttgcaccagataagaatcagttccttgagaataaattttttatctttcttaacttcagaa c.*1380
. . . . . . g.34278
tattaaatttggaatatctactaaaattgtgtgttatgtggctgtaaatgatgtacacgc c.*1440
. . . . . . g.34338
tgtaaaataagatcgctactgttatgtgggattattatttctaaatgttactcattgaaa c.*1500
. . . g.34372
tgagcatacaataaaaagcatttattgcacttaa c.*1534
(downstream sequence)
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