Canonical Allele Identifier: CA2649669877

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421672-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421675del , CM000663.2:g.197421675del	GRCh38
NC_000001.10:g.197390805del , CM000663.1:g.197390805del	GRCh37
NC_000001.9:g.195657428del	NCBI36
NG_008483.1:g.158398del
NG_008483.2:g.225214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1847del MANE Select	ENSP00000356370.3:p.Leu616TyrfsTer5
ENST00000638467.1:c.1847del	ENSP00000491102.1:p.Leu616TyrfsTer5
ENST00000681519.1:c.728del	ENSP00000505267.1:p.Leu243TyrfsTer5
ENST00000367397.1:c.-11del	ENSP00000356367.1:n.-11del
ENST00000367399.6:c.1511del	ENSP00000356369.2:p.Leu504TyrfsTer5
ENST00000367400.7:c.1847del	ENSP00000356370.3:p.Leu616TyrfsTer5
ENST00000484075.5:c.1847del	ENSP00000433932.1:p.Leu616TyrfsTer5
ENST00000535699.5:c.1640del	ENSP00000438786.1:p.Leu547TyrfsTer5
ENST00000538660.5:c.1847del	ENSP00000438091.1:p.Leu616TyrfsTer5
NM_001193640.1:c.1511del	NP_001180569.1:p.Leu504TyrfsTer5
NM_001257965.1:c.1640del	NP_001244894.1:p.Leu547TyrfsTer5
NM_001257966.1:c.1847del	NP_001244895.1:p.Leu616TyrfsTer5
NM_201253.2:c.1847del	NP_957705.1:p.Leu616TyrfsTer5
NR_047563.1:n.1923-75del
NR_047564.1:n.2056del
XM_011509365.1:c.1847del	XP_011507667.1:p.Leu616TyrfsTer5
XM_011509366.1:c.1847del	XP_011507668.1:p.Leu616TyrfsTer5
XM_011509367.1:c.1847del	XP_011507669.1:p.Leu616TyrfsTer5
XM_011509368.1:c.1265del	XP_011507670.1:p.Leu422TyrfsTer5
XM_011509369.1:c.290del	XP_011507671.1:p.Leu97TyrfsTer5
XM_011509365.2:c.1847del	XP_011507667.1:p.Leu616TyrfsTer5
XM_011509369.2:c.290del	XP_011507671.1:p.Leu97TyrfsTer5
XM_017000851.1:c.1004del	XP_016856340.1:p.Leu335TyrfsTer5
XM_017000852.1:c.1847del	XP_016856341.1:p.Leu616TyrfsTer5
NM_201253.3:c.1847del MANE Select	NP_957705.1:p.Leu616TyrfsTer5
NM_001193640.2:c.1511del	NP_001180569.1:p.Leu504TyrfsTer5
NM_001257965.2:c.1640del	NP_001244894.1:p.Leu547TyrfsTer5
NR_047563.2:n.1875-75del
NR_047564.2:n.2008del
NM_001257966.2:c.1847del	NP_001244895.1:p.Leu616TyrfsTer5