Canonical Allele Identifier: CA2745133608

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677418del , CM000663.2:g.114677418del	GRCh38
NC_000001.10:g.115220039del , CM000663.1:g.115220039del	GRCh37
NC_000001.9:g.115021562del	NCBI36
NG_008012.1:g.23138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1309del	ENSP00000358551.4:p.Ser437ProfsTer13
ENST00000520113.7:c.1321del MANE Select	ENSP00000430075.3:p.Ser441ProfsTer13
ENST00000637080.1:c.1104del	ENSP00000489753.1:n.1104del
ENST00000639077.1:n.986del
ENST00000369538.3:c.1408del	ENSP00000358551.3:p.Ser470ProfsTer13
ENST00000520113.6:c.1420del	ENSP00000430075.2:p.Ser474ProfsTer13
NM_000036.2:c.1420del	NP_000027.2:p.Ser474ProfsTer13
NM_001172626.1:c.1408del	NP_001166097.1:p.Ser470ProfsTer13
NM_000036.3:c.1321del MANE Select	NP_000027.3:p.Ser441ProfsTer13
NM_001172626.2:c.1309del	NP_001166097.2:p.Ser437ProfsTer13