Canonical Allele Identifier: CA2603521348
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v3: 1-114677759-T-TGG
gnomAD v4: 1-114677759-T-TGG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677759_114677760insGG , CM000663.2:g.114677759_114677760insGG GRCh38
NC_000001.10:g.115220380_115220381insGG , CM000663.1:g.115220380_115220381insGG GRCh37
NC_000001.9:g.115021903_115021904insGG NCBI36
NG_008012.1:g.22796_22797insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+150_1212+151insCC ENSP00000358551.4:n.1212+150_1212+151insCC
ENST00000520113.7:c.1224+150_1224+151insCC MANE Select ENSP00000430075.3:n.1224+150_1224+151insCC
ENST00000637080.1:c.1007+150_1007+151insCC ENSP00000489753.1:n.1007+150_1007+151insCC
ENST00000639077.1:n.889+150_889+151insCC
ENST00000369538.3:c.1311+150_1311+151insCC ENSP00000358551.3:n.1311+150_1311+151insCC
ENST00000520113.6:c.1323+150_1323+151insCC ENSP00000430075.2:n.1323+150_1323+151insCC
NM_000036.2:c.1323+150_1323+151insCC NP_000027.2:n.1323+150_1323+151insCC
NM_001172626.1:c.1311+150_1311+151insCC NP_001166097.1:n.1311+150_1311+151insCC
NM_000036.3:c.1224+150_1224+151insCC MANE Select NP_000027.3:n.1224+150_1224+151insCC
NM_001172626.2:c.1212+150_1212+151insCC NP_001166097.2:n.1212+150_1212+151insCC
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