Canonical Allele Identifier: CA2586964500

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421269_197421277del , CM000663.2:g.197421269_197421277del	GRCh38
NC_000001.10:g.197390399_197390407del , CM000663.1:g.197390399_197390407del	GRCh37
NC_000001.9:g.195657022_195657030del	NCBI36
NG_008483.1:g.157992_158000del
NG_008483.2:g.224808_224816del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.1441_1449del MANE Select	ENSP00000356370.3:p.Glu481_Ala483del
ENST00000638467.1:c.1441_1449del	ENSP00000491102.1:p.Glu481_Ala483del
ENST00000681519.1:c.322_330del	ENSP00000505267.1:p.Glu108_Ala110del
ENST00000367397.1:c.-417_-409del	ENSP00000356367.1:n.-417_-409del
ENST00000367399.6:c.1105_1113del	ENSP00000356369.2:p.Glu369_Ala371del
ENST00000367400.7:c.1441_1449del	ENSP00000356370.3:p.Glu481_Ala483del
ENST00000476483.1:n.401_409del
ENST00000484075.5:c.1441_1449del	ENSP00000433932.1:p.Glu481_Ala483del
ENST00000535699.5:c.1234_1242del	ENSP00000438786.1:p.Glu412_Ala414del
ENST00000538660.5:c.1441_1449del	ENSP00000438091.1:p.Glu481_Ala483del
NM_001193640.1:c.1105_1113del	NP_001180569.1:p.Glu369_Ala371del
NM_001257965.1:c.1234_1242del	NP_001244894.1:p.Glu412_Ala414del
NM_001257966.1:c.1441_1449del	NP_001244895.1:p.Glu481_Ala483del
NM_201253.2:c.1441_1449del	NP_957705.1:p.Glu481_Ala483del
NR_047563.1:n.1650_1658del
NR_047564.1:n.1650_1658del
XM_011509365.1:c.1441_1449del	XP_011507667.1:p.Glu481_Ala483del
XM_011509366.1:c.1441_1449del	XP_011507668.1:p.Glu481_Ala483del
XM_011509367.1:c.1441_1449del	XP_011507669.1:p.Glu481_Ala483del
XM_011509368.1:c.859_867del	XP_011507670.1:p.Glu287_Ala289del
XM_011509369.1:c.-117_-109del	XP_011507671.1:n.-117_-109del
XM_011509365.2:c.1441_1449del	XP_011507667.1:p.Glu481_Ala483del
XM_011509369.2:c.-117_-109del	XP_011507671.1:n.-117_-109del
XM_017000851.1:c.598_606del	XP_016856340.1:p.Glu200_Ala202del
XM_017000852.1:c.1441_1449del	XP_016856341.1:p.Glu481_Ala483del
NM_201253.3:c.1441_1449del MANE Select	NP_957705.1:p.Glu481_Ala483del
NM_001193640.2:c.1105_1113del	NP_001180569.1:p.Glu369_Ala371del
NM_001257965.2:c.1234_1242del	NP_001244894.1:p.Glu412_Ala414del
NR_047563.2:n.1602_1610del
NR_047564.2:n.1602_1610del
NM_001257966.2:c.1441_1449del	NP_001244895.1:p.Glu481_Ala483del