Canonical Allele Identifier: CA645538667

Gene: AMPD1

Linked Data

• COSMIC: COSM2177416 ; COSM2177417

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684302del , CM000663.2:g.114684302del	GRCh38
NC_000001.10:g.115226923del , CM000663.1:g.115226923del	GRCh37
NC_000001.9:g.115028446del	NCBI36
NG_008012.1:g.16254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.432del	ENSP00000358551.4:p.Lys145AsnfsTer27
ENST00000520113.7:c.444del MANE Select	ENSP00000430075.3:p.Lys149AsnfsTer27
ENST00000637080.1:c.447del	ENSP00000489753.1:p.Lys150AsnfsTer27
ENST00000639077.1:n.109del
ENST00000369538.3:c.531del	ENSP00000358551.3:p.Lys178AsnfsTer27
ENST00000485564.3:n.318del
ENST00000520113.6:c.543del	ENSP00000430075.2:p.Lys182AsnfsTer27
NM_000036.2:c.543del	NP_000027.2:p.Lys182AsnfsTer27
NM_001172626.1:c.531del	NP_001166097.1:p.Lys178AsnfsTer27
NM_000036.3:c.444del MANE Select	NP_000027.3:p.Lys149AsnfsTer27
NM_001172626.2:c.432del	NP_001166097.2:p.Lys145AsnfsTer27