(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_176824.2 in the BBS7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009111.1, covering BBS7 transcript NM_176824.2.
(upstream sequence)
g.5004
gacg c.-181
. . . . . . g.5064
tcacgcaggacgccactgccctgtcgccccgcctgtgcagcccaggacctaggcgcggta c.-121
. . . . . . g.5124
gctggggctggcttttgaggggcgcgggcagccttctgactgggtcggaggcctgcgggc c.-61
. . . . . . g.5184
ccgaagcctctgtccctcctgttcttgtccggcgctgcttagcccctccgcgtagtcatc c.-1
. . . | 02 . . . g.7475
ATGGATCTGATTTTAAACCGAATGGATTATCTGCAG | GTGGGAGTAACATCTCAGAAGACT c.60
M D L I L N R M D Y L Q | V G V T S Q K T p.20
. . . . | 03 . . g.12236
ATGAAGCTAATTCCTGCCTCAAGACACAGAGCTACACAAAAG | GTGGTTATTGGAGATCAT c.120
M K L I P A S R H R A T Q K | V V I G D H p.40
. . . . | 04 . . g.13833
GATGGGGTAGTTATGTGCTTTGGCATGAAGAAAGGAGAAGCAGCA | GCAGTGTTCAAGACT c.180
D G V V M C F G M K K G E A A | A V F K T p.60
. . . . . . g.13893
TTACCCGGGCCGAAGATTGCAAGGCTGGAACTGGGAGGGGTTATCAACACACCTCAGGAG c.240
L P G P K I A R L E L G G V I N T P Q E p.80
. . . . . . g.13953
AAAATTTTTATTGCTGCAGCATCTGAGATTAGAGGCTTCACAAAAAGAGGAAAACAGTTC c.300
K I F I A A A S E I R G F T K R G K Q F p.100
. . . . | 05 . . g.16338
CTCTCCTTTGAAACAAACCTCACTGAAAGCATTAAAGCTAT | GCACATATCTGGCTCAGAC c.360
L S F E T N L T E S I K A M | H I S G S D p.120
. . . . . . g.16398
CTCTTTCTCAGTGCAAGTTACATCTATAACCATTATTGTGACTGCAAAGACCAACATTAT c.420
L F L S A S Y I Y N H Y C D C K D Q H Y p.140
. . . . . . g.16458
TACCTTTCTGGGGATAAAATCAATGATGTGATCTGCCTTCCAGTGGAAAGATTATCTCGT c.480
Y L S G D K I N D V I C L P V E R L S R p.160
. . . . | 06 . g.19948
ATCACACCTGTATTGGCCTGCCAGGACAGAGTGCTCAGAGTTTTACAG | GGATCTGATGTG c.540
I T P V L A C Q D R V L R V L Q | G S D V p.180
. . . . . . g.20008
ATGTATGCAGTTGAAGTTCCTGGACCCCCTACTGTCTTAGCACTACACAATGGAAATGGC c.600
M Y A V E V P G P P T V L A L H N G N G p.200
| 07 . . . . . . g.20736
G | GTGACTCTGGAGAAGACCTTTTGTTTGGGACATCAGACGGAAAACTTGCGCTTATACAG c.660
G | D S G E D L L F G T S D G K L A L I Q p.220
. . . . . | 08 g.22413
ATTACTACATCCAAACCAGTACGCAAGTGGGAAATTCAAAATGAGAAAAAGAGAGGAG | GT c.720
I T T S K P V R K W E I Q N E K K R G G | p.240
. . . . . . g.22473
ATTTTGTGTATTGACAGCTTTGACATTGTGGGTGATGGGGTTAAAGATTTACTTGTTGGG c.780
I L C I D S F D I V G D G V K D L L V G p.260
. . . . . . g.22533
AGAGATGACGGAATGGTGGAAGTGTATAGTTTTGATAATGCAAATGAACCTGTTCTACGA c.840
R D D G M V E V Y S F D N A N E P V L R p.280
| 09 . . . . . g.26620
TTTGATCAG | ATGTTGTCTGAAAGCGTCACATCTATCCAGGGTGGTTGTGTAGGAAAAGAC c.900
F D Q | M L S E S V T S I Q G G C V G K D p.300
. . . | 10 . . . g.28017
AGCTATGATGAAATCGTGGTGTCCACATATTCAG | GCTGGGTTACAGGTCTGACAACAGAG c.960
S Y D E I V V S T Y S G | W V T G L T T E p.320
. . . . . . g.28077
CCCATTCATAAGGAAAGTGGACCAGGAGAAGAACTAAAAATTAATCAGGAGATGCAGAAT c.1020
P I H K E S G P G E E L K I N Q E M Q N p.340
. | 11. . . . . g.29844
AAAATTTCTTCCTTACG | GAATGAGTTGGAACATTTGCAGTATAAGGTATTGCAGGAAAGA c.1080
K I S S L R | N E L E H L Q Y K V L Q E R p.360
. . . . . . g.29904
GAGAATTATCAACAGTCTTCTCAATCAAGCAAAGCAAAATCAGCAGTACCTTCCTTTGGT c.1140
E N Y Q Q S S Q S S K A K S A V P S F G p.380
. . . . . . g.29964
ATAAATGATAAATTTACACTAAATAAAGATGATGCCAGTTACAGCCTTATCTTAGAGGTA c.1200
I N D K F T L N K D D A S Y S L I L E V p.400
. . . | 12 . . . g.31526
CAGACTGCAATAGATAATGTCTTAATACAG | AGTGATGTTCCAATAGATTTACTTGATGTG c.1260
Q T A I D N V L I Q | S D V P I D L L D V p.420
. . . . | 13 . . g.35816
GATAAAAATTCTGCTGTTGTTAGCTTTAGCAGCTGTGATTCTGAG | TCAAACGACAACTTC c.1320
D K N S A V V S F S S C D S E | S N D N F p.440
. . . . . | 14 . g.40223
CTTCTTGCCACTTATCGGTGCCAGGCAGATACTACAAGGCTGGAACTCAAG | ATTCGCTCA c.1380
L L A T Y R C Q A D T T R L E L K | I R S p.460
. . . . . . g.40283
ATTGAAGGCCAGTATGGCACACTACAAGCATATGTGACTCCAAGAATTCAACCCAAAACC c.1440
I E G Q Y G T L Q A Y V T P R I Q P K T p.480
. . . . . . g.40343
TGTCAGGTCCGCCAGTACCACATCAAACCTCTTTCACTCCATCAAAGAACTCACTTTATT c.1500
C Q V R Q Y H I K P L S L H Q R T H F I p.500
. | 15 . . . . . g.42151
GATCATGACAG | ACCCATGAATACACTGACCCTAACAGGCCAGTTCAGTTTTGCTGAAGTT c.1560
D H D R | P M N T L T L T G Q F S F A E V p.520
. . . . . . g.42211
CACTCCTGGGTGGTTTTTTGTCTGCCTGAAGTTCCAGAAAAACCTCCAGCAGGAGAATGT c.1620
H S W V V F C L P E V P E K P P A G E C p.540
. . . . . | 16 . g.46773
GTGACATTTTACTTTCAGAACACCTTTCTAGATACACAACTTGAAAGTACCTACAG | AAAA c.1680
V T F Y F Q N T F L D T Q L E S T Y R | K p.560
. . . . . . g.46833
GGAGAGGGAGTTTTTAAATCTGACAACATTTCTACTATCTCCATCCTAAAAGATGTGCTT c.1740
G E G V F K S D N I S T I S I L K D V L p.580
. . . . | 17 . . g.47006
TCTAAAGAAGCTACAAAAAGGAAAATTAACCTCAACATATCATACG | AGATAAATGAAGTA c.1800
S K E A T K R K I N L N I S Y E | I N E V p.600
. . . . . . g.47066
TCAGTCAAACACACTTTAAAGCTAATCCACCCAAAGCTGGAGTACCAGTTGCTTTTGGCT c.1860
S V K H T L K L I H P K L E Y Q L L L A p.620
. . . | 18 . . . g.47258
AAGAAAGTGCAGTTAATTGATGCTTTAAAA | GAATTACAGATTCATGAGGGAAATACGAAC c.1920
K K V Q L I D A L K | E L Q I H E G N T N p.640
. . . . . . g.47318
TTTCTGATACCAGAATATCACTGTATTCTAGAAGAGGCAGATCACCTACAGGAAGAATAC c.1980
F L I P E Y H C I L E E A D H L Q E E Y p.660
. . . | 19 . . . g.49530
AAAAAGCAACCTGCACATCTTGAAAGACTCTATG | GCATGATCACTGATCTTTTCATAGAT c.2040
K K Q P A H L E R L Y G | M I T D L F I D p.680
. . . . . . g.49590
AAATTTAAGTTTAAAGGCACCAATGTAAAAACTAAAGTACCCCTTCTATTGGAAATTCTG c.2100
K F K F K G T N V K T K V P L L L E I L p.700
. . . . g.49638
GACAGTTATGACCAAAATGCATTGATTTCATTCTTCGATGCAGCATGA c.2148
D S Y D Q N A L I S F F D A A X p.715
. . . . . . g.49698
catacaaataaggtaaagtcccaaagaagtggtctgtttaaatgaaaaatgttaaaagag c.*60
. . . . . . g.49758
aattagaagttaactgtgtatgtactttaatttcaaatgcttttttatatctaaaaatat c.*120
. . . . . . g.49818
ttgagatataatggctttttaaagtaatgcttctatttcttttgacaaattgaactttct c.*180
. . . . . . g.49878
aaaactaaaagagtctttttatttttaaaacacaagtagaatgatttaaataggatttta c.*240
. . . . . . g.49938
atgaatttttggcaagtggctgttttaatttttaaattgagaagtaatatgtggaaaatt c.*300
. . . . . . g.49998
aaaatatattcaaatgtattacaaggtacataaacacataaacatgtagaccgctttata c.*360
. . . . . . g.50058
ggcttcaaaatgtatttttatatattaccttatttgatcttcacaactgttgtaaaattt c.*420
. . . . . . g.50118
gtcaaatcatataagaaaactgattctcagtgaaattttgtgattaagaggacatgctaa c.*480
. . . . . . g.50178
tattttgtaaagctgggaccagaacccaagtactggtacttgctttgtgtcctggttact c.*540
. . . . . . g.50238
atgtatgttgccagctagtggaaataacctaccaattgttttttctaggagataggattg c.*600
. . . . . . g.50298
atttgcaactgatattccttttgcttggtagtgttttatgactctgctgcagtttgtgga c.*660
. . . . . . g.50358
aatgctggacttggctcagtgctataaattgtagccaggaaataagaagagcttacacag c.*720
. . . . . . g.50418
agtcgggggatcttaattagacatgctgtaaccagtggagctattcagcgtgcttcaagt c.*780
. . . . . . g.50478
gaagagtgcagaaatagtgatgccatcttagattttcctacactagtatcttctagatct c.*840
. . . . . . g.50538
ctttttatcatatatgacattaaggctacagaagttttgtgcattaatcttaattcatat c.*900
. . . . . . g.50598
ttattaatttcaagggaatattgaaaggttttaaaatggcatacagataatggaaaataa c.*960
. . . . . . g.50658
gctttatgtttcaagaagggcagactcacgaattttttagaaaacagtgcttcttaatga c.*1020
. . . . . . g.50718
tatgctattatacttattagttatgtgcaagctttgtatattcttatatttatatataaa c.*1080
. . . . . . g.50778
tataaaaatttgttaaaggcacgtatagttaagagagttttattttaataaggtcatatt c.*1140
. . . . . . g.50838
gtttttactatgtttaaaaaactttacttctgaaaggaacataattatatctaggtcact c.*1200
. . . . . . g.50898
agaacgtcattgtgttttttgttggttgccacagcttggggaaaaatagaaaaaaattaa c.*1260
. . . . . . g.50958
tgactgtatttgaatattttgtaatgcactgctatttattatatatatcaacagtagttc c.*1320
. . . . . . g.51018
aaggtgccatcttaaattaattgcatcttcattaggaaaaataaaaagcataaaacacaa c.*1380
. . . . . . g.51078
tttctggttactatgaataaacgcctaaatgttaagatgacattacagtcttgacacttg c.*1440
. . . . . . g.51138
agtactgtattactatgtgagctccgtgttaaataatttatgcacattatttaatcctaa c.*1500
. . . g.51169
caaccatatgactgtagttattagtccctat c.*1531
(downstream sequence)
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