Canonical Allele Identifier: CA2586964517

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421565_197421583del , CM000663.2:g.197421565_197421583del	GRCh38
NC_000001.10:g.197390695_197390713del , CM000663.1:g.197390695_197390713del	GRCh37
NC_000001.9:g.195657318_195657336del	NCBI36
NG_008483.1:g.158288_158306del
NG_008483.2:g.225104_225122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1737_1755del MANE Select	ENSP00000356370.3:p.Leu580ProfsTer?
ENST00000638467.1:c.1737_1755del	ENSP00000491102.1:p.Leu580ProfsTer?
ENST00000681519.1:c.618_636del	ENSP00000505267.1:p.Leu207ProfsTer?
ENST00000367397.1:c.-121_-103del	ENSP00000356367.1:n.-121_-103del
ENST00000367399.6:c.1401_1419del	ENSP00000356369.2:p.Leu468ProfsTer?
ENST00000367400.7:c.1737_1755del	ENSP00000356370.3:p.Leu580ProfsTer?
ENST00000484075.5:c.1737_1755del	ENSP00000433932.1:p.Leu580ProfsTer?
ENST00000535699.5:c.1530_1548del	ENSP00000438786.1:p.Leu511ProfsTer?
ENST00000538660.5:c.1737_1755del	ENSP00000438091.1:p.Leu580ProfsTer?
NM_001193640.1:c.1401_1419del	NP_001180569.1:p.Leu468ProfsTer?
NM_001257965.1:c.1530_1548del	NP_001244894.1:p.Leu511ProfsTer?
NM_001257966.1:c.1737_1755del	NP_001244895.1:p.Leu580ProfsTer?
NM_201253.2:c.1737_1755del	NP_957705.1:p.Leu580ProfsTer?
NR_047563.1:n.1922+24_1922+42del
NR_047564.1:n.1946_1964del
XM_011509365.1:c.1737_1755del	XP_011507667.1:p.Leu580ProfsTer?
XM_011509366.1:c.1737_1755del	XP_011507668.1:p.Leu580ProfsTer?
XM_011509367.1:c.1737_1755del	XP_011507669.1:p.Leu580ProfsTer?
XM_011509368.1:c.1155_1173del	XP_011507670.1:p.Leu386ProfsTer?
XM_011509369.1:c.180_198del	XP_011507671.1:p.Leu61ProfsTer?
XM_011509365.2:c.1737_1755del	XP_011507667.1:p.Leu580ProfsTer?
XM_011509369.2:c.180_198del	XP_011507671.1:p.Leu61ProfsTer?
XM_017000851.1:c.894_912del	XP_016856340.1:p.Leu299ProfsTer?
XM_017000852.1:c.1737_1755del	XP_016856341.1:p.Leu580ProfsTer?
NM_201253.3:c.1737_1755del MANE Select	NP_957705.1:p.Leu580ProfsTer?
NM_001193640.2:c.1401_1419del	NP_001180569.1:p.Leu468ProfsTer?
NM_001257965.2:c.1530_1548del	NP_001244894.1:p.Leu511ProfsTer?
NR_047563.2:n.1874+24_1874+42del
NR_047564.2:n.1898_1916del
NM_001257966.2:c.1737_1755del	NP_001244895.1:p.Leu580ProfsTer?