Canonical Allele Identifier: CA2647253125

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684126-AGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684127_114684129del , CM000663.2:g.114684127_114684129del	GRCh38
NC_000001.10:g.115226748_115226750del , CM000663.1:g.115226748_115226750del	GRCh37
NC_000001.9:g.115028271_115028273del	NCBI36
NG_008012.1:g.16427_16429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+70_535+72del	ENSP00000358551.4:n.535+70_535+72del
ENST00000520113.7:c.547+70_547+72del MANE Select	ENSP00000430075.3:n.547+70_547+72del
ENST00000637080.1:c.550+70_550+72del	ENSP00000489753.1:n.550+70_550+72del
ENST00000639077.1:n.212+70_212+72del
ENST00000369538.3:c.634+70_634+72del	ENSP00000358551.3:n.634+70_634+72del
ENST00000485564.3:n.421+70_421+72del
ENST00000520113.6:c.646+70_646+72del	ENSP00000430075.2:n.646+70_646+72del
NM_000036.2:c.646+70_646+72del	NP_000027.2:n.646+70_646+72del
NM_001172626.1:c.634+70_634+72del	NP_001166097.1:n.634+70_634+72del
NM_000036.3:c.547+70_547+72del MANE Select	NP_000027.3:n.547+70_547+72del
NM_001172626.2:c.535+70_535+72del	NP_001166097.2:n.535+70_535+72del