Canonical Allele Identifier: CA1190281728

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684205_114684206delinsAG , CM000663.2:g.114684205_114684206delinsAG	GRCh38
NC_000001.10:g.115226826_115226827delinsAG , CM000663.1:g.115226826_115226827delinsAG	GRCh37
NC_000001.9:g.115028349_115028350delinsAG	NCBI36
NG_008012.1:g.16350_16351delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.528_529delinsCT	ENSP00000358551.4:p.Phe176=
ENST00000520113.7:c.540_541delinsCT MANE Select	ENSP00000430075.3:p.Phe180=
ENST00000637080.1:c.543_544delinsCT	ENSP00000489753.1:p.Phe181=
ENST00000639077.1:n.205_206delinsCT
ENST00000369538.3:c.627_628delinsCT	ENSP00000358551.3:p.Phe209=
ENST00000485564.3:n.414_415delinsCT
ENST00000520113.6:c.639_640delinsCT	ENSP00000430075.2:p.Phe213=
NM_000036.2:c.639_640delinsCT	NP_000027.2:p.Phe213=
NM_001172626.1:c.627_628delinsCT	NP_001166097.1:p.Phe209=
NM_000036.3:c.540_541delinsCT MANE Select	NP_000027.3:p.Phe180=
NM_001172626.2:c.528_529delinsCT	NP_001166097.2:p.Phe176=