Canonical Allele Identifier: CA658820706

Gene: GP1BA CHRNE

Linked Data

• ClinVar Variation Id: 2736404
• ClinVar RCV Id: RCV003559937

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933188_4933190del , CM000679.2:g.4933188_4933190del	GRCh38
NC_000017.10:g.4836483_4836485del , CM000679.1:g.4836483_4836485del	GRCh37
NC_000017.9:g.4777263_4777265del	NCBI36
NG_008767.2:g.5894_5896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.584_586del (GP1BA) MANE Select	ENSP00000329380.5:p.Leu195del
ENST00000649830.1:c.-888+1156_-888+1158del (CHRNE)	ENSP00000496907.1:n.-888+1156_-888+1158del
ENST00000329125.5:c.584_586del (GP1BA)	ENSP00000329380.5:p.Leu195del
ENST00000611961.1:c.584_586del (GP1BA)	ENSP00000484439.1:p.Leu195del
NM_000173.6:c.584_586del (GP1BA)	NP_000164.5:p.Leu195del
NM_000173.7:c.584_586del (GP1BA) MANE Select	NP_000164.5:p.Leu195del