Canonical Allele Identifier: CA1005999364

Gene: AMPD1

Linked Data

• gnomAD v3: 1-114677792-T-TCC
• gnomAD v4: 1-114677792-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677793_114677794insCC , CM000663.2:g.114677793_114677794insCC	GRCh38
NC_000001.10:g.115220414_115220415insCC , CM000663.1:g.115220414_115220415insCC	GRCh37
NC_000001.9:g.115021937_115021938insCC	NCBI36
NG_008012.1:g.22763_22764insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+117_1212+118insGG	ENSP00000358551.4:n.1212+117_1212+118insG...
ENST00000520113.7:c.1224+117_1224+118insGG MANE Select	ENSP00000430075.3:n.1224+117_1224+118insG...
ENST00000637080.1:c.1007+117_1007+118insGG	ENSP00000489753.1:n.1007+117_1007+118insG...
ENST00000639077.1:n.889+117_889+118insGG
ENST00000369538.3:c.1311+117_1311+118insGG	ENSP00000358551.3:n.1311+117_1311+118insG...
ENST00000520113.6:c.1323+117_1323+118insGG	ENSP00000430075.2:n.1323+117_1323+118insG...
NM_000036.2:c.1323+117_1323+118insGG	NP_000027.2:n.1323+117_1323+118insGG
NM_001172626.1:c.1311+117_1311+118insGG	NP_001166097.1:n.1311+117_1311+118insGG
NM_000036.3:c.1224+117_1224+118insGG MANE Select	NP_000027.3:n.1224+117_1224+118insGG
NM_001172626.2:c.1212+117_1212+118insGG	NP_001166097.2:n.1212+117_1212+118insGG