Canonical Allele Identifier: CA2244625957

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4934077_4934078delinsCA , CM000679.2:g.4934077_4934078delinsCA	GRCh38
NC_000017.10:g.4837372_4837373delinsCA , CM000679.1:g.4837372_4837373delinsCA	GRCh37
NC_000017.9:g.4778113_4778114delinsCA	NCBI36
NG_008767.2:g.6783_6784delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1473_1474delinsCA (GP1BA) MANE Select	ENSP00000329380.5:p.Thr491=
ENST00000649830.1:c.-888+264_-888+265delinsTG (CHRNE)	ENSP00000496907.1:n.-888+264_-888+265delinsTG
ENST00000329125.5:c.1473_1474delinsCA (GP1BA)	ENSP00000329380.5:p.Thr491=
ENST00000611961.1:c.1395_1396delinsCA (GP1BA)	ENSP00000484439.1:p.Thr465=
NM_000173.6:c.1473_1474delinsCA (GP1BA)	NP_000164.5:p.Thr491=
NM_000173.7:c.1473_1474delinsCA (GP1BA) MANE Select	NP_000164.5:p.Thr491=