Canonical Allele Identifier: CA1148224464

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684370_114684381delinsAAAAAAAAAAAA , CM000663.2:g.114684370_114684381delinsAAAAAAAAAAAA	GRCh38
NC_000001.10:g.115226991_115227002delinsAAAAAAAAAAAA , CM000663.1:g.115226991_115227002delinsAAAAAAAAAAAA	GRCh37
NC_000001.9:g.115028514_115028525delinsAAAAAAAAAAAA	NCBI36
NG_008012.1:g.16175_16186delinsTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-17_370-6delinsTTTTTTTTTTTT	ENSP00000358551.4:n.370-17_370-6delinsTTTTTTTTTTTT
ENST00000520113.7:c.382-17_382-6delinsTTTTTTTTTTTT MANE Select	ENSP00000430075.3:n.382-17_382-6delinsTTTTTTTTTTTT
ENST00000637080.1:c.385-17_385-6delinsTTTTTTTTTTTT	ENSP00000489753.1:n.385-17_385-6delinsTTTTTTTTTTTT
ENST00000639077.1:n.47-17_47-6delinsTTTTTTTTTTTT
ENST00000369538.3:c.469-17_469-6delinsTTTTTTTTTTTT	ENSP00000358551.3:n.469-17_469-6delinsTTTTTTTTTTTT
ENST00000485564.3:n.256-17_256-6delinsTTTTTTTTTTTT
ENST00000520113.6:c.481-17_481-6delinsTTTTTTTTTTTT	ENSP00000430075.2:n.481-17_481-6delinsTTTTTTTTTTTT
NM_000036.2:c.481-17_481-6delinsTTTTTTTTTTTT	NP_000027.2:n.481-17_481-6delinsTTTTTTTTTTTT
NM_001172626.1:c.469-17_469-6delinsTTTTTTTTTTTT	NP_001166097.1:n.469-17_469-6delinsTTTTTTTTTTTT
NM_000036.3:c.382-17_382-6delinsTTTTTTTTTTTT MANE Select	NP_000027.3:n.382-17_382-6delinsTTTTTTTTTTTT
NM_001172626.2:c.370-17_370-6delinsTTTTTTTTTTTT	NP_001166097.2:n.370-17_370-6delinsTTTTTTTTTTTT