(used for variant description)
(last modified August 1, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_016302.3 in the CRBN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016864.1, covering CRBN transcript NM_016302.3.
(upstream sequence)
. . . g.5030
tgtcccagcctcctttgcgggtaaacagac c.-1
. . . . . . g.5090
ATGGCCGGCGAAGGAGATCAGCAGGACGCTGCGCACAACATGGGCAACCACCTGCCGCTC c.60
M A G E G D Q Q D A A H N M G N H L P L p.20
| 02. . . . . . g.9501
CTGCCTG | CAGAGAGTGAGGAAGAAGATGAAATGGAAGTTGAAGACCAGGATAGTAAAGAA c.120
L P A | E S E E E D E M E V E D Q D S K E p.40
. . . . . | 03 . g.10462
GCCAAAAAACCAAACATCATAAATTTTGACACCAGTCTGCCGACATCACATACA | TACCTA c.180
A K K P N I I N F D T S L P T S H T | Y L p.60
. . . . . . g.10522
GGTGCTGATATGGAAGAATTTCATGGCAGGACTTTGCACGATGACGACAGCTGTCAGGTG c.240
G A D M E E F H G R T L H D D D S C Q V p.80
. . . . . . g.10582
ATTCCAGTTCTTCCACAAGTGATGATGATCCTGATTCCCGGACAGACATTACCTCTTCAG c.300
I P V L P Q V M M I L I P G Q T L P L Q p.100
. . . . . . g.10642
CTTTTTCACCCTCAAGAAGTCAGTATGGTGCGGAATTTAATTCAGAAAGATAGAACCTTT c.360
L F H P Q E V S M V R N L I Q K D R T F p.120
. | 04. . . . . g.11835
GCTGTTCTTGCATACAG | CAATGTACAGGAAAGGGAAGCACAGTTTGGAACAACAGCAGAG c.420
A V L A Y S | N V Q E R E A Q F G T T A E p.140
. . . . . . g.11895
ATATATGCCTATCGAGAAGAACAGGATTTTGGAATTGAGATAGTGAAAGTGAAAGCAATT c.480
I Y A Y R E E Q D F G I E I V K V K A I p.160
. . . . | 05. . g.16937
GGAAGACAAAGGTTCAAAGTCCTTGAGCTAAGAACACAGTCAGATGG | AATCCAGCAAGCT c.540
G R Q R F K V L E L R T Q S D G | I Q Q A p.180
. . . . . . g.16997
AAAGTGCAAATTCTTCCCGAATGTGTGTTGCCTTCAACCATGTCTGCAGTTCAATTAGAA c.600
K V Q I L P E C V L P S T M S A V Q L E p.200
. . . . . . g.17057
TCCCTCAATAAGTGCCAGATATTTCCTTCAAAACCTGTCTCAAGAGAAGACCAATGTTCA c.660
S L N K C Q I F P S K P V S R E D Q C S p.220
. . | 06. . . . g.28469
TATAAATGGTGGCAGAAATACCAGAAG | AGAAAGTTTCATTGTGCAAATCTAACTTCATGG c.720
Y K W W Q K Y Q K | R K F H C A N L T S W p.240
. . . | 07 . . . g.29916
CCTCGCTGGCTGTATTCCTTATATGATGCT | GAGACCTTAATGGACAGAATCAAGAAACAG c.780
P R W L Y S L Y D A | E T L M D R I K K Q p.260
. . . . . | 08 . g.30647
CTACGTGAATGGGATGAAAATCTAAAAGATGATTCTCTTCCTTCAAATCCAATAG | ATTTT c.840
L R E W D E N L K D D S L P S N P I D | F p.280
. . . . . . g.30707
TCTTACAGAGTAGCTGCTTGTCTTCCTATTGATGATGTATTGAGAATTCAGCTCCTTAAA c.900
S Y R V A A C L P I D D V L R I Q L L K p.300
. . . . . | 09 . g.31238
ATTGGCAGTGCTATCCAGCGACTTCGCTGTGAATTAGACATTATGAATAAA | TGTACTTCC c.960
I G S A I Q R L R C E L D I M N K | C T S p.320
. . . . . | 10 . g.32134
CTTTGCTGTAAACAATGTCAAGAAACAGAAATAACAACCAAAAATGAAATATTCAG | TTTA c.1020
L C C K Q C Q E T E I T T K N E I F S | L p.340
. . . . . . g.32194
TCCTTATGTGGGCCGATGGCAGCTTATGTGAATCCTCATGGATATGTGCATGAGACACTT c.1080
S L C G P M A A Y V N P H G Y V H E T L p.360
. . . . . . g.32254
ACTGTGTATAAGGCTTGCAACTTGAATCTGATAGGCCGGCCTTCTACAGAACACAGCTGG c.1140
T V Y K A C N L N L I G R P S T E H S W p.380
| 11 . . . . . g.33724
TTTCCTGG | GTATGCCTGGACTGTTGCCCAGTGTAAGATCTGTGCAAGCCATATTGGATGG c.1200
F P G | Y A W T V A Q C K I C A S H I G W p.400
. . . . . . g.33784
AAGTTTACGGCCACCAAAAAAGACATGTCACCTCAAAAATTTTGGGGCTTAACGCGATCT c.1260
K F T A T K K D M S P Q K F W G L T R S p.420
. . . . . . g.33844
GCTCTGTTGCCCACGATCCCAGACACTGAAGATGAAATAAGTCCAGACAAAGTAATACTT c.1320
A L L P T I P D T E D E I S P D K V I L p.440
g.33853
TGCTTGTAA c.1329
C L X p.442
. . . . . . g.33913
acagatgtgatagagataaagttatctaacaaattggttatattctaagatctgctttgg c.*60
. . . . . . g.33973
aaattattgcctctgatacatacctaagtaaacataacattaatacctaagtaaacataa c.*120
. . . . . . g.34033
cattacttggagggttgcagtttctaagtgaaactgtatttgaaacttttaagtatactt c.*180
. . . . . . g.34093
taggaaacaagcatgaacggcagtctagaataccagaaacatctacttgggtagcttggt c.*240
. . . . . . g.34153
gccattatcctgtggaatctgatatgtctggtagcatgtcattgatgggacatgaagaca c.*300
. . . . . . g.34213
tctttggaaatgatgagattatttcctgtgttaaaaaaaaaaaaaatcttaaattcctac c.*360
. . . . . . g.34273
aatgtgaaactgaaactaataatttgatcctgatgtatgggacagcgtatctgtaccagt c.*420
. . . . . . g.34333
gctctaaataacaaaagctagggtgacaagtacatgttccttttggaaagaagcaaggca c.*480
. . . . . . g.34393
atgtatattaattattctaaaagggctttgttcctttccattttctttaacttctctgag c.*540
. . . . . . g.34453
atactgatttgtaaattttgaaaattagttaaaatatgcagttttttgagcccacgaata c.*600
. . . . . . g.34513
gttgtcatttcctttatgtgcctgttagtaaaaagtagtattgtgtatttgctcagtatc c.*660
. . . . . . g.34573
tgaactataagcccatttatactgttccatacaaaagctatttttcaaaaattaatttga c.*720
. . . . . . g.34633
accaaaactactactatagggaaaagatgccaaaacatgtcccctcacccaggctaaact c.*780
. . . . . . g.34693
tgatactgtattattttgttcaatgtaaattgaagaaaatctgtaagtaagtaaacctta c.*840
. . . . . . g.34753
agtgtgaaactaaacatgttctttgttcaaataatgtaaaatatctactcataattttaa c.*900
. . . . . . g.34813
agttctaaaaaggctgctttgccacctacctctttgcttatattcaagggtttagtgggt c.*960
. . . . . . g.34873
ccttccttccacatttgtatgataactttcgttttattggtagtcctttgctactttaaa c.*1020
. . . . . . g.34933
actaatcaggttaaatgtttactcaaatgtagtaatagtatgaggccaaaatacatgcct c.*1080
. . . . . . g.34993
tgaaggtggagtgaaatcagttgagtgtcacactgcatatttatgtaaatagagtaaatg c.*1140
. . . . . . g.35053
aaaattcaagaatacttccaatcaggatatgcccctgccttattttttctaaggtctact c.*1200
. . . g.35085
tttactactttaataattttgggtttgtgtga c.*1232
(downstream sequence)
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