Canonical Allele Identifier: CA2586964522

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427738del , CM000663.2:g.197427738del	GRCh38
NC_000001.10:g.197396868del , CM000663.1:g.197396868del	GRCh37
NC_000001.9:g.195663491del	NCBI36
NG_008483.1:g.164461del
NG_008483.2:g.231277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2413del MANE Select	ENSP00000356370.3:p.Ile805LeufsTer10
ENST00000638467.1:c.2413del	ENSP00000491102.1:p.Ile805LeufsTer10
ENST00000681519.1:c.1294del	ENSP00000505267.1:p.Ile432LeufsTer10
ENST00000367397.1:c.556del	ENSP00000356367.1:p.Ile186LeufsTer10
ENST00000367399.6:c.2077del	ENSP00000356369.2:p.Ile693LeufsTer10
ENST00000367400.7:c.2413del	ENSP00000356370.3:p.Ile805LeufsTer10
ENST00000480086.2:n.314del
ENST00000484075.5:c.2413del	ENSP00000433932.1:p.Ile805LeufsTer10
ENST00000535699.5:c.2206del	ENSP00000438786.1:p.Ile736LeufsTer10
ENST00000538660.5:c.2128+5782del	ENSP00000438091.1:n.2128+5782del
NM_001193640.1:c.2077del	NP_001180569.1:p.Ile693LeufsTer10
NM_001257965.1:c.2206del	NP_001244894.1:p.Ile736LeufsTer10
NM_001257966.1:c.2128+5782del	NP_001244895.1:n.2128+5782del
NM_201253.2:c.2413del	NP_957705.1:p.Ile805LeufsTer10
NR_047563.1:n.2414del
NR_047564.1:n.2622del
XM_011509365.1:c.2413del	XP_011507667.1:p.Ile805LeufsTer10
XM_011509366.1:c.2413del	XP_011507668.1:p.Ile805LeufsTer10
XM_011509367.1:c.2413del	XP_011507669.1:p.Ile805LeufsTer10
XM_011509368.1:c.1831del	XP_011507670.1:p.Ile611LeufsTer10
XM_011509369.1:c.856del	XP_011507671.1:p.Ile286LeufsTer10
XM_011509365.2:c.2413del	XP_011507667.1:p.Ile805LeufsTer10
XM_011509369.2:c.856del	XP_011507671.1:p.Ile286LeufsTer10
XM_017000851.1:c.1570del	XP_016856340.1:p.Ile524LeufsTer10
XM_017000852.1:c.2413del	XP_016856341.1:p.Ile805LeufsTer10
NM_201253.3:c.2413del MANE Select	NP_957705.1:p.Ile805LeufsTer10
NM_001193640.2:c.2077del	NP_001180569.1:p.Ile693LeufsTer10
NM_001257965.2:c.2206del	NP_001244894.1:p.Ile736LeufsTer10
NR_047563.2:n.2366del
NR_047564.2:n.2574del
NM_001257966.2:c.2128+5782del	NP_001244895.1:n.2128+5782del