Canonical Allele Identifier: CA2808297059

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932707_4932708del , CM000679.2:g.4932707_4932708del	GRCh38
NC_000017.10:g.4836002_4836003del , CM000679.1:g.4836002_4836003del	GRCh37
NC_000017.9:g.4776782_4776783del	NCBI36
NG_008767.2:g.5413_5414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.103_104del (GP1BA) MANE Select	ENSP00000329380.5:p.Lys35GlufsTer21
ENST00000649830.1:c.-888+1634_-888+1635del (CHRNE)	ENSP00000496907.1:n.-888+1634_-888+1635del
ENST00000329125.5:c.103_104del (GP1BA)	ENSP00000329380.5:p.Lys35GlufsTer21
ENST00000611961.1:c.103_104del (GP1BA)	ENSP00000484439.1:p.Lys35GlufsTer21
NM_000173.6:c.103_104del (GP1BA)	NP_000164.5:p.Lys35GlufsTer21
NM_000173.7:c.103_104del (GP1BA) MANE Select	NP_000164.5:p.Lys35GlufsTer21