Canonical Allele Identifier: CA2586964504

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421306del , CM000663.2:g.197421306del	GRCh38
NC_000001.10:g.197390436del , CM000663.1:g.197390436del	GRCh37
NC_000001.9:g.195657059del	NCBI36
NG_008483.1:g.158029del
NG_008483.2:g.224845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1478del MANE Select	ENSP00000356370.3:p.Phe493SerfsTer9
ENST00000638467.1:c.1478del	ENSP00000491102.1:p.Phe493SerfsTer9
ENST00000681519.1:c.359del	ENSP00000505267.1:p.Phe120SerfsTer9
ENST00000367397.1:c.-380del	ENSP00000356367.1:n.-380del
ENST00000367399.6:c.1142del	ENSP00000356369.2:p.Phe381SerfsTer9
ENST00000367400.7:c.1478del	ENSP00000356370.3:p.Phe493SerfsTer9
ENST00000476483.1:n.438del
ENST00000484075.5:c.1478del	ENSP00000433932.1:p.Phe493SerfsTer9
ENST00000535699.5:c.1271del	ENSP00000438786.1:p.Phe424SerfsTer9
ENST00000538660.5:c.1478del	ENSP00000438091.1:p.Phe493SerfsTer9
NM_001193640.1:c.1142del	NP_001180569.1:p.Phe381SerfsTer9
NM_001257965.1:c.1271del	NP_001244894.1:p.Phe424SerfsTer9
NM_001257966.1:c.1478del	NP_001244895.1:p.Phe493SerfsTer9
NM_201253.2:c.1478del	NP_957705.1:p.Phe493SerfsTer9
NR_047563.1:n.1687del
NR_047564.1:n.1687del
XM_011509365.1:c.1478del	XP_011507667.1:p.Phe493SerfsTer9
XM_011509366.1:c.1478del	XP_011507668.1:p.Phe493SerfsTer9
XM_011509367.1:c.1478del	XP_011507669.1:p.Phe493SerfsTer9
XM_011509368.1:c.896del	XP_011507670.1:p.Phe299SerfsTer9
XM_011509369.1:c.-80del	XP_011507671.1:n.-80del
XM_011509365.2:c.1478del	XP_011507667.1:p.Phe493SerfsTer9
XM_011509369.2:c.-80del	XP_011507671.1:n.-80del
XM_017000851.1:c.635del	XP_016856340.1:p.Phe212SerfsTer9
XM_017000852.1:c.1478del	XP_016856341.1:p.Phe493SerfsTer9
NM_201253.3:c.1478del MANE Select	NP_957705.1:p.Phe493SerfsTer9
NM_001193640.2:c.1142del	NP_001180569.1:p.Phe381SerfsTer9
NM_001257965.2:c.1271del	NP_001244894.1:p.Phe424SerfsTer9
NR_047563.2:n.1639del
NR_047564.2:n.1639del
NM_001257966.2:c.1478del	NP_001244895.1:p.Phe493SerfsTer9