Canonical Allele Identifier: CA2244625304

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932800_4932801delinsAC , CM000679.2:g.4932800_4932801delinsAC	GRCh38
NC_000017.10:g.4836095_4836096delinsAC , CM000679.1:g.4836095_4836096delinsAC	GRCh37
NC_000017.9:g.4776875_4776876delinsAC	NCBI36
NG_008767.2:g.5506_5507delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.196_197delinsAC (GP1BA) MANE Select	ENSP00000329380.5:p.Thr66=
ENST00000649830.1:c.-888+1541_-888+1542delinsGT (CHRNE)	ENSP00000496907.1:n.-888+1541_-888+1542delinsGT
ENST00000329125.5:c.196_197delinsAC (GP1BA)	ENSP00000329380.5:p.Thr66=
ENST00000611961.1:c.196_197delinsAC (GP1BA)	ENSP00000484439.1:p.Thr66=
NM_000173.6:c.196_197delinsAC (GP1BA)	NP_000164.5:p.Thr66=
NM_000173.7:c.196_197delinsAC (GP1BA) MANE Select	NP_000164.5:p.Thr66=