Canonical Allele Identifier: CA645534542

Gene: CRB1

Linked Data

• COSMIC: COSM4516358 ; COSM4516359

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421660_197421661delinsTT , CM000663.2:g.197421660_197421661delinsTT	GRCh38
NC_000001.10:g.197390790_197390791delinsTT , CM000663.1:g.197390790_197390791delinsTT	GRCh37
NC_000001.9:g.195657413_195657414delinsTT	NCBI36
NG_008483.1:g.158383_158384delinsTT
NG_008483.2:g.225199_225200delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1832_1833delinsTT MANE Select	ENSP00000356370.3:p.Ser611Phe
ENST00000638467.1:c.1832_1833delinsTT	ENSP00000491102.1:p.Ser611Phe
ENST00000681519.1:c.713_714delinsTT	ENSP00000505267.1:p.Ser238Phe
ENST00000367397.1:c.-26_-25delinsTT	ENSP00000356367.1:n.-26_-25delinsTT
ENST00000367399.6:c.1496_1497delinsTT	ENSP00000356369.2:p.Ser499Phe
ENST00000367400.7:c.1832_1833delinsTT	ENSP00000356370.3:p.Ser611Phe
ENST00000484075.5:c.1832_1833delinsTT	ENSP00000433932.1:p.Ser611Phe
ENST00000535699.5:c.1625_1626delinsTT	ENSP00000438786.1:p.Ser542Phe
ENST00000538660.5:c.1832_1833delinsTT	ENSP00000438091.1:p.Ser611Phe
NM_001193640.1:c.1496_1497delinsTT	NP_001180569.1:p.Ser499Phe
NM_001257965.1:c.1625_1626delinsTT	NP_001244894.1:p.Ser542Phe
NM_001257966.1:c.1832_1833delinsTT	NP_001244895.1:p.Ser611Phe
NM_201253.2:c.1832_1833delinsTT	NP_957705.1:p.Ser611Phe
NR_047563.1:n.1923-90_1923-89delinsTT
NR_047564.1:n.2041_2042delinsTT
XM_011509365.1:c.1832_1833delinsTT	XP_011507667.1:p.Ser611Phe
XM_011509366.1:c.1832_1833delinsTT	XP_011507668.1:p.Ser611Phe
XM_011509367.1:c.1832_1833delinsTT	XP_011507669.1:p.Ser611Phe
XM_011509368.1:c.1250_1251delinsTT	XP_011507670.1:p.Ser417Phe
XM_011509369.1:c.275_276delinsTT	XP_011507671.1:p.Ser92Phe
XM_011509365.2:c.1832_1833delinsTT	XP_011507667.1:p.Ser611Phe
XM_011509369.2:c.275_276delinsTT	XP_011507671.1:p.Ser92Phe
XM_017000851.1:c.989_990delinsTT	XP_016856340.1:p.Ser330Phe
XM_017000852.1:c.1832_1833delinsTT	XP_016856341.1:p.Ser611Phe
NM_201253.3:c.1832_1833delinsTT MANE Select	NP_957705.1:p.Ser611Phe
NM_001193640.2:c.1496_1497delinsTT	NP_001180569.1:p.Ser499Phe
NM_001257965.2:c.1625_1626delinsTT	NP_001244894.1:p.Ser542Phe
NR_047563.2:n.1875-90_1875-89delinsTT
NR_047564.2:n.1993_1994delinsTT
NM_001257966.2:c.1832_1833delinsTT	NP_001244895.1:p.Ser611Phe