Canonical Allele Identifier: CA2647249104

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679612-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679617del , CM000663.2:g.114679617del	GRCh38
NC_000001.10:g.115222238del , CM000663.1:g.115222238del	GRCh37
NC_000001.9:g.115023761del	NCBI36
NG_008012.1:g.20943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.851del	ENSP00000358551.4:p.Asn284ThrfsTer23
ENST00000520113.7:c.863del MANE Select	ENSP00000430075.3:p.Asn288ThrfsTer23
ENST00000637080.1:c.646del	ENSP00000489753.1:n.646del
ENST00000639077.1:n.528del
ENST00000369538.3:c.950del	ENSP00000358551.3:p.Asn317ThrfsTer23
ENST00000520113.6:c.962del	ENSP00000430075.2:p.Asn321ThrfsTer23
NM_000036.2:c.962del	NP_000027.2:p.Asn321ThrfsTer23
NM_001172626.1:c.950del	NP_001166097.1:p.Asn317ThrfsTer23
NM_000036.3:c.863del MANE Select	NP_000027.3:p.Asn288ThrfsTer23
NM_001172626.2:c.851del	NP_001166097.2:p.Asn284ThrfsTer23