Canonical Allele Identifier: CA2244625938

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4934035_4934036delinsAT , CM000679.2:g.4934035_4934036delinsAT	GRCh38
NC_000017.10:g.4837330_4837331delinsAT , CM000679.1:g.4837330_4837331delinsAT	GRCh37
NC_000017.9:g.4778071_4778072delinsAT	NCBI36
NG_008767.2:g.6741_6742delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1431_1432delinsAT (GP1BA) MANE Select	ENSP00000329380.5:p.Thr477=
ENST00000649830.1:c.-888+306_-888+307delinsAT (CHRNE)	ENSP00000496907.1:n.-888+306_-888+307delinsAT
ENST00000329125.5:c.1431_1432delinsAT (GP1BA)	ENSP00000329380.5:p.Thr477=
ENST00000611961.1:c.1353_1354delinsAT (GP1BA)	ENSP00000484439.1:p.Thr451=
NM_000173.6:c.1431_1432delinsAT (GP1BA)	NP_000164.5:p.Thr477=
NM_000173.7:c.1431_1432delinsAT (GP1BA) MANE Select	NP_000164.5:p.Thr477=