Canonical Allele Identifier: CA1218063082

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421310_197421311delinsGT , CM000663.2:g.197421310_197421311delinsGT	GRCh38
NC_000001.10:g.197390440_197390441delinsGT , CM000663.1:g.197390440_197390441delinsGT	GRCh37
NC_000001.9:g.195657063_195657064delinsGT	NCBI36
NG_008483.1:g.158033_158034delinsGT
NG_008483.2:g.224849_224850delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1482_1483delinsGT MANE Select	ENSP00000356370.3:p.Leu494=
ENST00000638467.1:c.1482_1483delinsGT	ENSP00000491102.1:p.Leu494=
ENST00000681519.1:c.363_364delinsGT	ENSP00000505267.1:p.Leu121=
ENST00000367397.1:c.-376_-375delinsGT	ENSP00000356367.1:n.-376_-375delinsGT
ENST00000367399.6:c.1146_1147delinsGT	ENSP00000356369.2:p.Leu382=
ENST00000367400.7:c.1482_1483delinsGT	ENSP00000356370.3:p.Leu494=
ENST00000476483.1:n.442_443delinsGT
ENST00000484075.5:c.1482_1483delinsGT	ENSP00000433932.1:p.Leu494=
ENST00000535699.5:c.1275_1276delinsGT	ENSP00000438786.1:p.Leu425=
ENST00000538660.5:c.1482_1483delinsGT	ENSP00000438091.1:p.Leu494=
NM_001193640.1:c.1146_1147delinsGT	NP_001180569.1:p.Leu382=
NM_001257965.1:c.1275_1276delinsGT	NP_001244894.1:p.Leu425=
NM_001257966.1:c.1482_1483delinsGT	NP_001244895.1:p.Leu494=
NM_201253.2:c.1482_1483delinsGT	NP_957705.1:p.Leu494=
NR_047563.1:n.1691_1692delinsGT
NR_047564.1:n.1691_1692delinsGT
XM_011509365.1:c.1482_1483delinsGT	XP_011507667.1:p.Leu494=
XM_011509366.1:c.1482_1483delinsGT	XP_011507668.1:p.Leu494=
XM_011509367.1:c.1482_1483delinsGT	XP_011507669.1:p.Leu494=
XM_011509368.1:c.900_901delinsGT	XP_011507670.1:p.Leu300=
XM_011509369.1:c.-76_-75delinsGT	XP_011507671.1:n.-76_-75delinsGT
XM_011509365.2:c.1482_1483delinsGT	XP_011507667.1:p.Leu494=
XM_011509369.2:c.-76_-75delinsGT	XP_011507671.1:n.-76_-75delinsGT
XM_017000851.1:c.639_640delinsGT	XP_016856340.1:p.Leu213=
XM_017000852.1:c.1482_1483delinsGT	XP_016856341.1:p.Leu494=
NM_201253.3:c.1482_1483delinsGT MANE Select	NP_957705.1:p.Leu494=
NM_001193640.2:c.1146_1147delinsGT	NP_001180569.1:p.Leu382=
NM_001257965.2:c.1275_1276delinsGT	NP_001244894.1:p.Leu425=
NR_047563.2:n.1643_1644delinsGT
NR_047564.2:n.1643_1644delinsGT
NM_001257966.2:c.1482_1483delinsGT	NP_001244895.1:p.Leu494=