Canonical Allele Identifier: CA2244625477

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933222_4933223delinsCT , CM000679.2:g.4933222_4933223delinsCT	GRCh38
NC_000017.10:g.4836517_4836518delinsCT , CM000679.1:g.4836517_4836518delinsCT	GRCh37
NC_000017.9:g.4777297_4777298delinsCT	NCBI36
NG_008767.2:g.5928_5929delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.618_619delinsCT (GP1BA) MANE Select	ENSP00000329380.5:p.Gly206=
ENST00000649830.1:c.-888+1119_-888+1120delinsAG (CHRNE)	ENSP00000496907.1:n.-888+1119_-888+1120delinsAG
ENST00000329125.5:c.618_619delinsCT (GP1BA)	ENSP00000329380.5:p.Gly206=
ENST00000611961.1:c.618_619delinsCT (GP1BA)	ENSP00000484439.1:p.Gly206=
NM_000173.6:c.618_619delinsCT (GP1BA)	NP_000164.5:p.Gly206=
NM_000173.7:c.618_619delinsCT (GP1BA) MANE Select	NP_000164.5:p.Gly206=