Canonical Allele Identifier: CA2647253451

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684272-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684274del , CM000663.2:g.114684274del	GRCh38
NC_000001.10:g.115226895del , CM000663.1:g.115226895del	GRCh37
NC_000001.9:g.115028418del	NCBI36
NG_008012.1:g.16283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.461del	ENSP00000358551.4:p.Phe154SerfsTer18
ENST00000520113.7:c.473del MANE Select	ENSP00000430075.3:p.Phe158SerfsTer18
ENST00000637080.1:c.476del	ENSP00000489753.1:p.Phe159SerfsTer18
ENST00000639077.1:n.138del
ENST00000369538.3:c.560del	ENSP00000358551.3:p.Phe187SerfsTer18
ENST00000485564.3:n.347del
ENST00000520113.6:c.572del	ENSP00000430075.2:p.Phe191SerfsTer18
NM_000036.2:c.572del	NP_000027.2:p.Phe191SerfsTer18
NM_001172626.1:c.560del	NP_001166097.1:p.Phe187SerfsTer18
NM_000036.3:c.473del MANE Select	NP_000027.3:p.Phe158SerfsTer18
NM_001172626.2:c.461del	NP_001166097.2:p.Phe154SerfsTer18