Canonical Allele Identifier: CA2635578598

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4932787-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932788_4932789dup , CM000679.2:g.4932788_4932789dup	GRCh38
NC_000017.10:g.4836083_4836084dup , CM000679.1:g.4836083_4836084dup	GRCh37
NC_000017.9:g.4776863_4776864dup	NCBI36
NG_008767.2:g.5494_5495dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.184_185dup (GP1BA) MANE Select	ENSP00000329380.5:p.Leu64ProfsTer5
ENST00000649830.1:c.-888+1553_-888+1554dup (CHRNE)	ENSP00000496907.1:n.-888+1553_-888+1554dup
ENST00000329125.5:c.184_185dup (GP1BA)	ENSP00000329380.5:p.Leu64ProfsTer5
ENST00000611961.1:c.184_185dup (GP1BA)	ENSP00000484439.1:p.Leu64ProfsTer5
NM_000173.6:c.184_185dup (GP1BA)	NP_000164.5:p.Leu64ProfsTer5
NM_000173.7:c.184_185dup (GP1BA) MANE Select	NP_000164.5:p.Leu64ProfsTer5