Canonical Allele Identifier: CA2695224136

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932627_4932635del , CM000679.2:g.4932627_4932635del	GRCh38
NC_000017.10:g.4835922_4835930del , CM000679.1:g.4835922_4835930del	GRCh37
NC_000017.9:g.4776702_4776710del	NCBI36
NG_008767.2:g.5333_5341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.23_31del (GP1BA) MANE Select	ENSP00000329380.5:p.Leu8_Leu10del
ENST00000649830.1:c.-888+1713_-888+1721del (CHRNE)	ENSP00000496907.1:n.-888+1713_-888+1721del
ENST00000329125.5:c.23_31del (GP1BA)	ENSP00000329380.5:p.Leu8_Leu10del
ENST00000611961.1:c.23_31del (GP1BA)	ENSP00000484439.1:p.Leu8_Leu10del
NM_000173.6:c.23_31del (GP1BA)	NP_000164.5:p.Leu8_Leu10del
NM_000173.7:c.23_31del (GP1BA) MANE Select	NP_000164.5:p.Leu8_Leu10del