Canonical Allele Identifier: CA2647249058

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679472-T-TACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679472_114679473insACAG , CM000663.2:g.114679472_114679473insACAG	GRCh38
NC_000001.10:g.115222093_115222094insACAG , CM000663.1:g.115222093_115222094insACAG	GRCh37
NC_000001.9:g.115023616_115023617insACAG	NCBI36
NG_008012.1:g.21083_21084insCTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.885+106_885+107insCTGT	ENSP00000358551.4:n.885+106_885+107insCTGT
ENST00000520113.7:c.897+106_897+107insCTGT MANE Select	ENSP00000430075.3:n.897+106_897+107insCTGT
ENST00000637080.1:c.680+106_680+107insCTGT	ENSP00000489753.1:n.680+106_680+107insCTGT
ENST00000639077.1:n.562+106_562+107insCTGT
ENST00000369538.3:c.984+106_984+107insCTGT	ENSP00000358551.3:n.984+106_984+107insCTGT
ENST00000520113.6:c.996+106_996+107insCTGT	ENSP00000430075.2:n.996+106_996+107insCTGT
NM_000036.2:c.996+106_996+107insCTGT	NP_000027.2:n.996+106_996+107insCTGT
NM_001172626.1:c.984+106_984+107insCTGT	NP_001166097.1:n.984+106_984+107insCTGT
NM_000036.3:c.897+106_897+107insCTGT MANE Select	NP_000027.3:n.897+106_897+107insCTGT
NM_001172626.2:c.885+106_885+107insCTGT	NP_001166097.2:n.885+106_885+107insCTGT