Canonical Allele Identifier: CA2586964525

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427861_197427867del , CM000663.2:g.197427861_197427867del	GRCh38
NC_000001.10:g.197396991_197396997del , CM000663.1:g.197396991_197396997del	GRCh37
NC_000001.9:g.195663614_195663620del	NCBI36
NG_008483.1:g.164584_164590del
NG_008483.2:g.231400_231406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2536_2542del MANE Select	ENSP00000356370.3:p.Gly846SerfsTer8
ENST00000638467.1:c.2536_2542del	ENSP00000491102.1:p.Gly846SerfsTer8
ENST00000681519.1:c.1417_1423del	ENSP00000505267.1:p.Gly473SerfsTer8
ENST00000367397.1:c.679_685del	ENSP00000356367.1:p.Gly227SerfsTer8
ENST00000367399.6:c.2200_2206del	ENSP00000356369.2:p.Gly734SerfsTer8
ENST00000367400.7:c.2536_2542del	ENSP00000356370.3:p.Gly846SerfsTer8
ENST00000484075.5:c.2536_2542del	ENSP00000433932.1:p.Gly846SerfsTer8
ENST00000535699.5:c.2329_2335del	ENSP00000438786.1:p.Gly777SerfsTer8
ENST00000538660.5:c.2128+5905_2128+5911del	ENSP00000438091.1:n.2128+5905_2128+5911del
NM_001193640.1:c.2200_2206del	NP_001180569.1:p.Gly734SerfsTer8
NM_001257965.1:c.2329_2335del	NP_001244894.1:p.Gly777SerfsTer8
NM_001257966.1:c.2128+5905_2128+5911del	NP_001244895.1:n.2128+5905_2128+5911del
NM_201253.2:c.2536_2542del	NP_957705.1:p.Gly846SerfsTer8
NR_047563.1:n.2537_2543del
NR_047564.1:n.2745_2751del
XM_011509365.1:c.2536_2542del	XP_011507667.1:p.Gly846SerfsTer8
XM_011509366.1:c.2536_2542del	XP_011507668.1:p.Gly846SerfsTer8
XM_011509367.1:c.2536_2542del	XP_011507669.1:p.Gly846SerfsTer8
XM_011509368.1:c.1954_1960del	XP_011507670.1:p.Gly652SerfsTer8
XM_011509369.1:c.979_985del	XP_011507671.1:p.Gly327SerfsTer8
XM_011509365.2:c.2536_2542del	XP_011507667.1:p.Gly846SerfsTer8
XM_011509369.2:c.979_985del	XP_011507671.1:p.Gly327SerfsTer8
XM_017000851.1:c.1693_1699del	XP_016856340.1:p.Gly565SerfsTer8
XM_017000852.1:c.2536_2542del	XP_016856341.1:p.Gly846SerfsTer8
NM_201253.3:c.2536_2542del MANE Select	NP_957705.1:p.Gly846SerfsTer8
NM_001193640.2:c.2200_2206del	NP_001180569.1:p.Gly734SerfsTer8
NM_001257965.2:c.2329_2335del	NP_001244894.1:p.Gly777SerfsTer8
NR_047563.2:n.2489_2495del
NR_047564.2:n.2697_2703del
NM_001257966.2:c.2128+5905_2128+5911del	NP_001244895.1:n.2128+5905_2128+5911del