Canonical Allele Identifier: CA1005999390
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677795_114677796insCT , CM000663.2:g.114677795_114677796insCT GRCh38
NC_000001.10:g.115220416_115220417insCT , CM000663.1:g.115220416_115220417insCT GRCh37
NC_000001.9:g.115021939_115021940insCT NCBI36
NG_008012.1:g.22760_22761insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+114_1212+115insAG ENSP00000358551.4:n.1212+114_1212+115insA...
ENST00000520113.7:c.1224+114_1224+115insAG MANE Select ENSP00000430075.3:n.1224+114_1224+115insA...
ENST00000637080.1:c.1007+114_1007+115insAG ENSP00000489753.1:n.1007+114_1007+115insA...
ENST00000639077.1:n.889+114_889+115insAG
ENST00000369538.3:c.1311+114_1311+115insAG ENSP00000358551.3:n.1311+114_1311+115insA...
ENST00000520113.6:c.1323+114_1323+115insAG ENSP00000430075.2:n.1323+114_1323+115insA...
NM_000036.2:c.1323+114_1323+115insAG NP_000027.2:n.1323+114_1323+115insAG
NM_001172626.1:c.1311+114_1311+115insAG NP_001166097.1:n.1311+114_1311+115insAG
NM_000036.3:c.1224+114_1224+115insAG MANE Select NP_000027.3:n.1224+114_1224+115insAG
NM_001172626.2:c.1212+114_1212+115insAG NP_001166097.2:n.1212+114_1212+115insAG