(used for variant description)
(last modified January 30, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_015585.4 in the CFAP61 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.11, covering CFAP61 transcript NM_015585.4.
(upstream sequence)
. . . g.5054
aggctgcgcgtcctccttgcggcagcgcgtggagtg c.-61
. . . | 02 . . . g.9140
cggcgtcctggagctgcggatgag | tggacttttttctctcttttggggacaggataaaaa c.-1
. . . . . . g.9200
ATGTCAGTACTCACTTCTCCAAGAGGAAAGGTAGAAGTTGTTCATTGCCGAAGAACAGAA c.60
M S V L T S P R G K V E V V H C R R T E p.20
. . . . . . g.9260
TCACAGGATGTTTATTGTATCAAAAGCCTTATTAGAAAATTTACCTGCAAGCTGTTTGGG c.120
S Q D V Y C I K S L I R K F T C K L F G p.40
. . | 03 . . . . g.23377
AAGCTAAATATCATCTATCTTCT | AGAAAAGGCCAACCTTGCTGTTACCCTCTGCAATGAC c.180
K L N I I Y L L | E K A N L A V T L C N D p.60
. . . . . . g.23437
AAGGAGGAGATCATGGCCCAGGCCACCTTCCTGGACTACCCCAACTGGAATGTTGCCAAG c.240
K E E I M A Q A T F L D Y P N W N V A K p.80
. . . . . | 04 . g.26794
CAGGATGACTGGGTGTCAGTGTTCCGGGAGCTCGACAGTGACATCCCATGCACA | CCCCTG c.300
Q D D W V S V F R E L D S D I P C T | P L p.100
. . . . . . g.26854
AATACGTTGTTCATGCACCTCTTTGTGGCCGTGGATGAGTATTCTGTTGGCTGTTGCAAA c.360
N T L F M H L F V A V D E Y S V G C C K p.120
. | 05 . . . . . g.27724
GAGATTCTTCG | AACCGTGTATAAGGCAGTGCCAGAGCTGCACTTCATATTTCTCATCGTG c.420
E I L R | T V Y K A V P E L H F I F L I V p.140
. | 06 . . . . g.28016
CCATCCTACATGAGCCTAG | GCTCAACTCTCATAACTGTTTTTGACCAAGTGGGGAACATC c.480
P S Y M S L G | S T L I T V F D Q V G N I p.160
. . . . . . g.28076
CCGTGTCTGACGTATGAGGAAGACTTTGCAGTGCATATATGTCACAGGCACAGCCACTAT c.540
P C L T Y E E D F A V H I C H R H S H Y p.180
. . | 07 . . . . g.43364
CCTCAGCTGCACGTTCGCAAAGCCAG | GGTGGAAGACCATGACGATCTCATGCCAATATTT c.600
P Q L H V R K A R | V E D H D D L M P I F p.200
. . . . . . g.43424
ATGCGCTATGACACAATTCTGAAGGAAACTTACGGTGAATACTTCCTGGCCGAACTAATA c.660
M R Y D T I L K E T Y G E Y F L A E L I p.220
. . . | 08 . . g.51162
GAGGCCCAAGATGAAGAGAATCATGCTGTTGTGTGTGAG | GTGGAAGGCACAGCTGTTGGG c.720
E A Q D E E N H A V V C E | V E G T A V G p.240
. . . . . . g.51222
TTCATGAGTGTGTGCTCAAGAGTGAACATGCAACTGCTGCATGAGTGCTTTGACTTGGGC c.780
F M S V C S R V N M Q L L H E C F D L G p.260
. . . . . . g.51282
CCTTTCCACGGACTCTGTTTCCCACATCCTGATGACGTTCTGGAATCACCACAAGACCTA c.840
P F H G L C F P H P D D V L E S P Q D L p.280
. | 09 . . . . g.95384
AGTGTCCGAAGAAGTCAAG | ATGCTGAGCTCAGGAGTAGCAGCCAAGGTTCCCAAAAAATA c.900
S V R R S Q D | A E L R S S S Q G S Q K I p.300
. . . . . | 10 . g.111865
GTCGAGGAGTTGCAGGAACCTGTCTCTCCAGATACCATGGAAAACATCCAG | GGAAATATT c.960
V E E L Q E P V S P D T M E N I Q | G N I p.320
. . . . . . g.111925
GCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAA c.1020
A R E A A S E E A L T A V Q S G N V S E p.340
| 11 . . . . . . g.116590
CCGGAG | GACATAGAAAAACTCAGTGACATCTCCACTGGATATGCACAGTATCACCATGTC c.1080
P E | D I E K L S D I S T G Y A Q Y H H V p.360
. . . . . . g.116650
AGCAGTAGGAGCTTGGCATCGCTCGTACTGCCTGAAGAGCCCGTCCACTTCCGCCCCATC c.1140
S S R S L A S L V L P E E P V H F R P I p.380
. . . . . . g.116710
TACAGGGGAGCCTCAGCTGCTTTTTGTATTCAGCTGTTTTGTATTGATGAGAAATATGAA c.1200
Y R G A S A A F C I Q L F C I D E K Y E p.400
| 12 . . . . | 13 . . g.121822
GCAAG | GTCGCTGGATTTTATGAATTTTGTTTTCAGTCTTTTTTCT | GATAAGAACTTCTGT c.1260
A R | S L D F M N F V F S L F S | D K N F C p.420
. . . . . . g.121882
GTAATTTCTCTGCCCCATCTCACCCCCGAGTTCTTCCTCATCCAGAACTTCGTGAAAATG c.1320
V I S L P H L T P E F F L I Q N F V K M p.440
. . . . . . g.121942
GTCCCTTTCAACACCTGCACCCTCGAGCAGGACCTCTACGTCTTCCACCGGGCTGGATTG c.1380
V P F N T C T L E Q D L Y V F H R A G L p.460
| 14 . . . . . . g.140471
CTCAA | GTCCATTAATATAAGATTTGCCACTCTCTTGGATACTCCTGGTGTGGAAAATCTT c.1440
L K | S I N I R F A T L L D T P G V E N L p.480
. . . . . . g.140531
GTCAGCACCCTCATGTTGAATAAAAGCATATTGGAGGACTTAGACCGTTACAACAAGGCT c.1500
V S T L M L N K S I L E D L D R Y N K A p.500
. | 15 . . . . . g.143876
CGCAAAGACCCT | GATGGAACACTGCTGCAGGCATTTGTAGCTGAAGTTGCAGAACAAATA c.1560
R K D P | D G T L L Q A F V A E V A E Q I p.520
. . . | 16 . . . g.149086
GTTGGTATTGCAGTGATCAGAAATGAAATG | GACATTGAGTACATACGGTCCCATTACAAC c.1620
V G I A V I R N E M | D I E Y I R S H Y N p.540
. . . . . . g.149146
ATTGAAGATTTCATCTACTTCAGTCACCACCAGCGCGAAGAACACGGGCACATGCATCAC c.1680
I E D F I Y F S H H Q R E E H G H M H H p.560
. . . . . . g.149206
TTTGCCCTCAACCCCATTTTCCGGCACTACACCAAGTTCTTTCTGAAGGAGATCCTGCGT c.1740
F A L N P I F R H Y T K F F L K E I L R p.580
. . . . . | 17. g.152257
TTAGGCTTTAAATCCTGTCTCTACTACCGTGTTTACCCAAAATCCAGAGAAGGCAAG | TTC c.1800
L G F K S C L Y Y R V Y P K S R E G K | F p.600
. . . . . . g.152317
CAGAACCCCTACGCCCACTCCCTGACATCTGCCCTTCATTACTTGGTTCCCGTGCGACCA c.1860
Q N P Y A H S L T S A L H Y L V P V R P p.620
. . . . . . g.152377
CGACGACAGATTGTCTATCCTCTGGAAAAGCTTGGCATAAACGCTCCATCAAAGGCGGTC c.1920
R R Q I V Y P L E K L G I N A P S K A V p.640
. | 18 . . . . . g.180783
TCCAAGGATCCG | ATGAGTTATGCTTTAAACCATACAAACAGAAAACTAACATTGGAACCT c.1980
S K D P | M S Y A L N H T N R K L T L E P p.660
. . . . . . g.180843
AAAATTACTGTCAATGCCAAGATCATTGTGGTTGGTGCATCCAGTGTTGGAATTTCCTTC c.2040
K I T V N A K I I V V G A S S V G I S F p.680
. . | 19 . . . . g.198643
CTAGAGACATTGGTATTTTG | CTCTCACATGAAGTTTAATAATCTTACCCTGATTTCAACT c.2100
L E T L V F C | S H M K F N N L T L I S T p.700
. . . . . | 20 g.204082
CATGGACTCCCAGGAAAAAAACTTCTGGACACTGAACAAAGGAAATTTTTAGCCAGCGA | C c.2160
H G L P G K K L L D T E Q R K F L A S D | p.720
. . . . . . g.204142
CACTGTTTTAATGATAAAGATTATGCACTGATGTCACTGTGCTCCTGGGTTAATGTCGTG c.2220
H C F N D K D Y A L M S L C S W V N V V p.740
. . . . . . g.204202
GTGGGTAGAATGACCGGCATAGACCGAGCAGCCAAGCACGTTGTGCTTTCCACGGACGAG c.2280
V G R M T G I D R A A K H V V L S T D E p.760
. . . . | 21 . g.215454
ATCGTGCCCTACGACCACCTCATCCTCTGCACCGGGCAGCAGTACCAG | GTCCCATGCCCT c.2340
I V P Y D H L I L C T G Q Q Y Q | V P C P p.780
. . . . . . g.215514
ACAGAGGCTGATATTAGTCAACACCTGACAAACAGGGAGGTTCCCAACAGCAGTCAGCGG c.2400
T E A D I S Q H L T N R E V P N S S Q R p.800
. . . . . . g.215574
CGGTACACGGGGAAAGTTCCTTGCAACCATTTCACTCTCAACGAGGAAGAGGATTGCTTT c.2460
R Y T G K V P C N H F T L N E E E D C F p.820
. . . . | 22 . . g.229669
AAGGCACTGATTTGGATAAGGAATAACTCCATCACCACAGAAG | GGAATATCATTGTCTAT c.2520
K A L I W I R N N S I T T E G | N I I V Y p.840
. . . . . . g.229729
GGGAATACAATTGATACTTACACCACCGTGGAGACGCTCTTAAACCTTGGCGTGAGCGGC c.2580
G N T I D T Y T T V E T L L N L G V S G p.860
. . . . . . g.229789
AGCCGCATCCACCTCGTGCAGCCCCCGCCCGCCTCCACCATCACCTGCATCAACAACTAC c.2640
S R I H L V Q P P P A S T I T C I N N Y p.880
. . . . . . g.229849
TCGGTGGAGAGCGCCGTGGCGGACGCGCTAGGAGCCGCCGGAGTCACTATGTACCGGGAT c.2700
S V E S A V A D A L G A A G V T M Y R D p.900
. . . . . . g.229909
GCGATCCTGGCCCAGTGGAATGACGGCCTGCACCCAGACCCCATCTACAGCGCCTCCTTC c.2760
A I L A Q W N D G L H P D P I Y S A S F p.920
. . . | 23 . . . g.241119
ACCACACCCACCAAGCCTTTCAGACTCCAGTGCTCT | ATGTTCTTCAGCTTCTGTGAGAAG c.2820
T T P T K P F R L Q C S | M F F S F C E K p.940
. . . . . . g.241179
AATGTGGATTATGAAACGTTTAAAGCCCTCAATGATGCATGTCTTGTGTATGACAGTCGA c.2880
N V D Y E T F K A L N D A C L V Y D S R p.960
. . . . . . g.241239
CTTGTGATTGATACCAACTTCCACACCAACGACATAGCCATCAGAGCTGCTGGCTCCCTC c.2940
L V I D T N F H T N D I A I R A A G S L p.980
. . . . . . g.241299
ACCAAATTCTCCAATAGATACTACTCAAATGAGTGGACTCACAGCAACTTCAGTTCCAAA c.3000
T K F S N R Y Y S N E W T H S N F S S K p.1000
. . . . . . g.241359
GAAATTGGCTTTCAGCTGGCAGCAGCTATGCTACATCTCTTTGATCCAACCCTTGAGCCT c.3060
E I G F Q L A A A M L H L F D P T L E P p.1020
. . . . . . g.241419
GTGACCGAGCCACCAGCTAATCTTGACCGGCTCATCCCCATGTACAAGGGAGCCAAGATT c.3120
V T E P P A N L D R L I P M Y K G A K I p.1040
| 24 . . . . . . g.242842
CAAG | GGGGCATTCTTCCTGGGTCTTACCATTATCTGCATATTGCCAAGCCTGCCATTCCA c.3180
Q G | G I L P G S Y H Y L H I A K P A I P p.1060
. . . | 25 . . . g.250691
ACTCCCTTGGAGGTACAAATGGCACAGCCTAATTAT | GGTTTAGAACTAGTAACCGGCAGT c.3240
T P L E V Q M A Q P N Y | G L E L V T G S p.1080
. . . . . . g.250751
GCGAAAAATGGGACTTACTTCCGAATTCATATTAACAAGTATAAAATGGTGGAAACCATC c.3300
A K N G T Y F R I H I N K Y K M V E T I p.1100
. . . . . . g.250811
ACGTGCCTTTCTAGGGAGCCCTTCCCCGCCTCCAACTACATCCGCTTGTTTGGCCAGCAC c.3360
T C L S R E P F P A S N Y I R L F G Q H p.1120
. . . . . . g.250871
GAGCAACTCCTCAACAACCTGTGTGCTCGGTACGATGAAAACCTGATCACAGATCTCTAT c.3420
E Q L L N N L C A R Y D E N L I T D L Y p.1140
| 26 . . . . . . g.294375
AG | CTACTTCACCGAGCCGTGGTGCCTGGCCCTGTTCCACGATCGTTTTATTGATCTCAGG c.3480
S | Y F T E P W C L A L F H D R F I D L R p.1160
. . . | 27 . . . g.312723
AAAGAGTTACGCCAAATCTTAGCCTCCAAGGAG | GAGGAAGATCTTCCTTCCATAGAGCAG c.3540
K E L R Q I L A S K E | E E D L P S I E Q p.1180
. . . . . . g.312783
TTAGCCCATCAAATAGAAGATGAGGAAATCAACCCGACTGAGAAGCCCAGGCAATACCTC c.3600
L A H Q I E D E E I N P T E K P R Q Y L p.1200
. . . . . . g.312843
AAAAGAGTTTTTGAGGAATCCATCTACAAAACCCTGGTGGAGAGAAGCACTCTTGACTAC c.3660
K R V F E E S I Y K T L V E R S T L D Y p.1220
. . . . . g.312897
CTGCACTATAACCGCTACCACCTGCCCATGTACGCGTGGCCAGGCATCGTTTAG c.3714
L H Y N R Y H L P M Y A W P G I V X p.1237
. . . . . . g.312957
ttgtaggcagggtctcccctttatggttttcatttatttagttcctggaaacgcgctctg c.*60
. . . . . . g.313017
tagaaatagaaaagttctctgcagcctggtttgacagcgaagccagcccctggtggtttt c.*120
. . . . . . g.313077
gttcattcctttccttccctgacttatgcctgtagttttctatcatcccagtaggtggca c.*180
. . . . . . g.313137
cacggccgtgtgcctctcttctggggcaggctcgctttacaaatcccaggcatgttcctg c.*240
. . . . g.313185
tgcagaataatccatttcagcaataaaatgagatcatagtgtgtaaaa c.*288
(downstream sequence)
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