Canonical Allele Identifier: CA1311919

Gene: CRB1

Linked Data

• ClinVar Variation Id: 973360
• ClinVar RCV Id: RCV001249875 ; RCV001587287 ; RCV003449804
• dbSNP Id: rs780580887
• ExAC: 1:197390401 AATCGCAACC / A
• gnomAD v2: 1-197390401-AATCGCAACC-A
• gnomAD v4: 1-197421271-AATCGCAACC-A
• MyVariant Identifiers: chr1:g.197390402_197390410del (hg19) ; chr1:g.197421272_197421280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421273_197421281del , CM000663.2:g.197421273_197421281del	GRCh38
NC_000001.10:g.197390403_197390411del , CM000663.1:g.197390403_197390411del	GRCh37
NC_000001.9:g.195657026_195657034del	NCBI36
NG_008483.1:g.157996_158004del
NG_008483.2:g.224812_224820del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1445_1453del MANE Select	ENSP00000356370.3:p.Ile482_Thr484del
ENST00000638467.1:c.1445_1453del	ENSP00000491102.1:p.Ile482_Thr484del
ENST00000681519.1:c.326_334del	ENSP00000505267.1:p.Ile109_Thr111del
ENST00000367397.1:c.-413_-405del	ENSP00000356367.1:n.-413_-405del
ENST00000367399.6:c.1109_1117del	ENSP00000356369.2:p.Ile370_Thr372del
ENST00000367400.7:c.1445_1453del	ENSP00000356370.3:p.Ile482_Thr484del
ENST00000476483.1:n.405_413del
ENST00000484075.5:c.1445_1453del	ENSP00000433932.1:p.Ile482_Thr484del
ENST00000535699.5:c.1238_1246del	ENSP00000438786.1:p.Ile413_Thr415del
ENST00000538660.5:c.1445_1453del	ENSP00000438091.1:p.Ile482_Thr484del
NM_001193640.1:c.1109_1117del	NP_001180569.1:p.Ile370_Thr372del
NM_001257965.1:c.1238_1246del	NP_001244894.1:p.Ile413_Thr415del
NM_001257966.1:c.1445_1453del	NP_001244895.1:p.Ile482_Thr484del
NM_201253.2:c.1445_1453del	NP_957705.1:p.Ile482_Thr484del
NR_047563.1:n.1654_1662del
NR_047564.1:n.1654_1662del
XM_011509365.1:c.1445_1453del	XP_011507667.1:p.Ile482_Thr484del
XM_011509366.1:c.1445_1453del	XP_011507668.1:p.Ile482_Thr484del
XM_011509367.1:c.1445_1453del	XP_011507669.1:p.Ile482_Thr484del
XM_011509368.1:c.863_871del	XP_011507670.1:p.Ile288_Thr290del
XM_011509369.1:c.-113_-105del	XP_011507671.1:n.-113_-105del
XM_011509365.2:c.1445_1453del	XP_011507667.1:p.Ile482_Thr484del
XM_011509369.2:c.-113_-105del	XP_011507671.1:n.-113_-105del
XM_017000851.1:c.602_610del	XP_016856340.1:p.Ile201_Thr203del
XM_017000852.1:c.1445_1453del	XP_016856341.1:p.Ile482_Thr484del
NM_201253.3:c.1445_1453del MANE Select	NP_957705.1:p.Ile482_Thr484del
NM_001193640.2:c.1109_1117del	NP_001180569.1:p.Ile370_Thr372del
NM_001257965.2:c.1238_1246del	NP_001244894.1:p.Ile413_Thr415del
NR_047563.2:n.1606_1614del
NR_047564.2:n.1606_1614del
NM_001257966.2:c.1445_1453del	NP_001244895.1:p.Ile482_Thr484del