Canonical Allele Identifier: CA1218063192

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421589_197421590delinsTA , CM000663.2:g.197421589_197421590delinsTA	GRCh38
NC_000001.10:g.197390719_197390720delinsTA , CM000663.1:g.197390719_197390720delinsTA	GRCh37
NC_000001.9:g.195657342_195657343delinsTA	NCBI36
NG_008483.1:g.158312_158313delinsTA
NG_008483.2:g.225128_225129delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1761_1762delinsTA MANE Select	ENSP00000356370.3:p.Cys587=
ENST00000638467.1:c.1761_1762delinsTA	ENSP00000491102.1:p.Cys587=
ENST00000681519.1:c.642_643delinsTA	ENSP00000505267.1:p.Cys214=
ENST00000367397.1:c.-97_-96delinsTA	ENSP00000356367.1:n.-97_-96delinsTA
ENST00000367399.6:c.1425_1426delinsTA	ENSP00000356369.2:p.Cys475=
ENST00000367400.7:c.1761_1762delinsTA	ENSP00000356370.3:p.Cys587=
ENST00000484075.5:c.1761_1762delinsTA	ENSP00000433932.1:p.Cys587=
ENST00000535699.5:c.1554_1555delinsTA	ENSP00000438786.1:p.Cys518=
ENST00000538660.5:c.1761_1762delinsTA	ENSP00000438091.1:p.Cys587=
NM_001193640.1:c.1425_1426delinsTA	NP_001180569.1:p.Cys475=
NM_001257965.1:c.1554_1555delinsTA	NP_001244894.1:p.Cys518=
NM_001257966.1:c.1761_1762delinsTA	NP_001244895.1:p.Cys587=
NM_201253.2:c.1761_1762delinsTA	NP_957705.1:p.Cys587=
NR_047563.1:n.1922+48_1922+49delinsTA
NR_047564.1:n.1970_1971delinsTA
XM_011509365.1:c.1761_1762delinsTA	XP_011507667.1:p.Cys587=
XM_011509366.1:c.1761_1762delinsTA	XP_011507668.1:p.Cys587=
XM_011509367.1:c.1761_1762delinsTA	XP_011507669.1:p.Cys587=
XM_011509368.1:c.1179_1180delinsTA	XP_011507670.1:p.Cys393=
XM_011509369.1:c.204_205delinsTA	XP_011507671.1:p.Cys68=
XM_011509365.2:c.1761_1762delinsTA	XP_011507667.1:p.Cys587=
XM_011509369.2:c.204_205delinsTA	XP_011507671.1:p.Cys68=
XM_017000851.1:c.918_919delinsTA	XP_016856340.1:p.Cys306=
XM_017000852.1:c.1761_1762delinsTA	XP_016856341.1:p.Cys587=
NM_201253.3:c.1761_1762delinsTA MANE Select	NP_957705.1:p.Cys587=
NM_001193640.2:c.1425_1426delinsTA	NP_001180569.1:p.Cys475=
NM_001257965.2:c.1554_1555delinsTA	NP_001244894.1:p.Cys518=
NR_047563.2:n.1874+48_1874+49delinsTA
NR_047564.2:n.1922_1923delinsTA
NM_001257966.2:c.1761_1762delinsTA	NP_001244895.1:p.Cys587=