Canonical Allele Identifier: CA2649669878

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421708-T-TGCTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421709_197421713dup , CM000663.2:g.197421709_197421713dup	GRCh38
NC_000001.10:g.197390839_197390843dup , CM000663.1:g.197390839_197390843dup	GRCh37
NC_000001.9:g.195657462_195657466dup	NCBI36
NG_008483.1:g.158432_158436dup
NG_008483.2:g.225248_225252dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1881_1885dup MANE Select	ENSP00000356370.3:p.Asn629SerfsTer14
ENST00000638467.1:c.1881_1885dup	ENSP00000491102.1:p.Asn629SerfsTer14
ENST00000681519.1:c.762_766dup	ENSP00000505267.1:p.Asn256SerfsTer14
ENST00000367397.1:c.24_28dup	ENSP00000356367.1:p.Asn10SerfsTer14
ENST00000367399.6:c.1545_1549dup	ENSP00000356369.2:p.Asn517SerfsTer14
ENST00000367400.7:c.1881_1885dup	ENSP00000356370.3:p.Asn629SerfsTer14
ENST00000484075.5:c.1881_1885dup	ENSP00000433932.1:p.Asn629SerfsTer14
ENST00000535699.5:c.1674_1678dup	ENSP00000438786.1:p.Asn560SerfsTer14
ENST00000538660.5:c.1881_1885dup	ENSP00000438091.1:p.Asn629SerfsTer14
NM_001193640.1:c.1545_1549dup	NP_001180569.1:p.Asn517SerfsTer14
NM_001257965.1:c.1674_1678dup	NP_001244894.1:p.Asn560SerfsTer14
NM_001257966.1:c.1881_1885dup	NP_001244895.1:p.Asn629SerfsTer14
NM_201253.2:c.1881_1885dup	NP_957705.1:p.Asn629SerfsTer14
NR_047563.1:n.1923-41_1923-37dup
NR_047564.1:n.2090_2094dup
XM_011509365.1:c.1881_1885dup	XP_011507667.1:p.Asn629SerfsTer14
XM_011509366.1:c.1881_1885dup	XP_011507668.1:p.Asn629SerfsTer14
XM_011509367.1:c.1881_1885dup	XP_011507669.1:p.Asn629SerfsTer14
XM_011509368.1:c.1299_1303dup	XP_011507670.1:p.Asn435SerfsTer14
XM_011509369.1:c.324_328dup	XP_011507671.1:p.Asn110SerfsTer14
XM_011509365.2:c.1881_1885dup	XP_011507667.1:p.Asn629SerfsTer14
XM_011509369.2:c.324_328dup	XP_011507671.1:p.Asn110SerfsTer14
XM_017000851.1:c.1038_1042dup	XP_016856340.1:p.Asn348SerfsTer14
XM_017000852.1:c.1881_1885dup	XP_016856341.1:p.Asn629SerfsTer14
NM_201253.3:c.1881_1885dup MANE Select	NP_957705.1:p.Asn629SerfsTer14
NM_001193640.2:c.1545_1549dup	NP_001180569.1:p.Asn517SerfsTer14
NM_001257965.2:c.1674_1678dup	NP_001244894.1:p.Asn560SerfsTer14
NR_047563.2:n.1875-41_1875-37dup
NR_047564.2:n.2042_2046dup
NM_001257966.2:c.1881_1885dup	NP_001244895.1:p.Asn629SerfsTer14