Canonical Allele Identifier: CA1148295161

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684341_114684342delinsAA , CM000663.2:g.114684341_114684342delinsAA	GRCh38
NC_000001.10:g.115226962_115226963delinsAA , CM000663.1:g.115226962_115226963delinsAA	GRCh37
NC_000001.9:g.115028485_115028486delinsAA	NCBI36
NG_008012.1:g.16214_16215delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.392_393delinsTT	ENSP00000358551.4:p.Ile131=
ENST00000520113.7:c.404_405delinsTT MANE Select	ENSP00000430075.3:p.Ile135=
ENST00000637080.1:c.407_408delinsTT	ENSP00000489753.1:p.Ile136=
ENST00000639077.1:n.69_70delinsTT
ENST00000369538.3:c.491_492delinsTT	ENSP00000358551.3:p.Ile164=
ENST00000485564.3:n.278_279delinsTT
ENST00000520113.6:c.503_504delinsTT	ENSP00000430075.2:p.Ile168=
NM_000036.2:c.503_504delinsTT	NP_000027.2:p.Ile168=
NM_001172626.1:c.491_492delinsTT	NP_001166097.1:p.Ile164=
NM_000036.3:c.404_405delinsTT MANE Select	NP_000027.3:p.Ile135=
NM_001172626.2:c.392_393delinsTT	NP_001166097.2:p.Ile131=