Canonical Allele Identifier: CA2837994670

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435111del , CM000663.2:g.197435111del	GRCh38
NC_000001.10:g.197404241del , CM000663.1:g.197404241del	GRCh37
NC_000001.9:g.195670864del	NCBI36
NG_008483.1:g.171834del
NG_008483.2:g.238650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3248del MANE Select	ENSP00000356370.3:p.Gly1083GlufsTer8
ENST00000638467.1:c.3248del	ENSP00000491102.1:p.Gly1083GlufsTer8
ENST00000681519.1:c.2129del	ENSP00000505267.1:p.Gly710GlufsTer8
ENST00000367397.1:c.1391del	ENSP00000356367.1:p.Gly464GlufsTer8
ENST00000367399.6:c.2912del	ENSP00000356369.2:p.Gly971GlufsTer8
ENST00000367400.7:c.3248del	ENSP00000356370.3:p.Gly1083GlufsTer8
ENST00000484075.5:c.3248del	ENSP00000433932.1:p.Gly1083GlufsTer8
ENST00000535699.5:c.3176del	ENSP00000438786.1:p.Gly1059GlufsTer8
ENST00000538660.5:c.2129-489del	ENSP00000438091.1:n.2129-489del
NM_001193640.1:c.2912del	NP_001180569.1:p.Gly971GlufsTer8
NM_001257965.1:c.3176del	NP_001244894.1:p.Gly1059GlufsTer8
NM_001257966.1:c.2129-489del	NP_001244895.1:n.2129-489del
NM_201253.2:c.3248del	NP_957705.1:p.Gly1083GlufsTer8
NR_047563.1:n.3249del
NR_047564.1:n.3457del
XM_011509365.1:c.3248del	XP_011507667.1:p.Gly1083GlufsTer8
XM_011509366.1:c.3248del	XP_011507668.1:p.Gly1083GlufsTer8
XM_011509367.1:c.3248del	XP_011507669.1:p.Gly1083GlufsTer8
XM_011509368.1:c.2666del	XP_011507670.1:p.Gly889GlufsTer8
XM_011509369.1:c.1691del	XP_011507671.1:p.Gly564GlufsTer8
XM_011509365.2:c.3248del	XP_011507667.1:p.Gly1083GlufsTer8
XM_011509369.2:c.1691del	XP_011507671.1:p.Gly564GlufsTer8
XM_017000851.1:c.2405del	XP_016856340.1:p.Gly802GlufsTer8
XM_017000852.1:c.3383del	XP_016856341.1:p.Gly1128GlufsTer8
NM_201253.3:c.3248del MANE Select	NP_957705.1:p.Gly1083GlufsTer8
NM_001193640.2:c.2912del	NP_001180569.1:p.Gly971GlufsTer8
NM_001257965.2:c.3176del	NP_001244894.1:p.Gly1059GlufsTer8
NR_047563.2:n.3201del
NR_047564.2:n.3409del
NM_001257966.2:c.2129-489del	NP_001244895.1:n.2129-489del