Canonical Allele Identifier: CA1190277421

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679635_114679647delinsCCATCTCGTTAAG , CM000663.2:g.114679635_114679647delinsCCATCTCGTTAAG	GRCh38
NC_000001.10:g.115222256_115222268delinsCCATCTCGTTAAG , CM000663.1:g.115222256_115222268delinsCCATCTCGTTAAG	GRCh37
NC_000001.9:g.115023779_115023791delinsCCATCTCGTTAAG	NCBI36
NG_008012.1:g.20909_20921delinsCTTAACGAGATGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.817_829delinsCTTAACGAGATGG	ENSP00000358551.4:p.Leu273=
ENST00000520113.7:c.829_841delinsCTTAACGAGATGG MANE Select	ENSP00000430075.3:p.Leu277=
ENST00000637080.1:c.612_624delinsCTTAACGAGATGG	ENSP00000489753.1:n.612_624delinsCTTAACGAGATGG
ENST00000639077.1:n.494_506delinsCTTAACGAGATGG
ENST00000369538.3:c.916_928delinsCTTAACGAGATGG	ENSP00000358551.3:p.Leu306=
ENST00000520113.6:c.928_940delinsCTTAACGAGATGG	ENSP00000430075.2:p.Leu310=
NM_000036.2:c.928_940delinsCTTAACGAGATGG	NP_000027.2:p.Leu310=
NM_001172626.1:c.916_928delinsCTTAACGAGATGG	NP_001166097.1:p.Leu306=
NM_000036.3:c.829_841delinsCTTAACGAGATGG MANE Select	NP_000027.3:p.Leu277=
NM_001172626.2:c.817_829delinsCTTAACGAGATGG	NP_001166097.2:p.Leu273=