Canonical Allele Identifier: CA1190276481
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677801_114677807del , CM000663.2:g.114677801_114677807del GRCh38
NC_000001.10:g.115220422_115220428del , CM000663.1:g.115220422_115220428del GRCh37
NC_000001.9:g.115021945_115021951del NCBI36
NG_008012.1:g.22752_22758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+106_1212+112del ENSP00000358551.4:n.1212+106_1212+112del
ENST00000520113.7:c.1224+106_1224+112del MANE Select ENSP00000430075.3:n.1224+106_1224+112del
ENST00000637080.1:c.1007+106_1007+112del ENSP00000489753.1:n.1007+106_1007+112del
ENST00000639077.1:n.889+106_889+112del
ENST00000369538.3:c.1311+106_1311+112del ENSP00000358551.3:n.1311+106_1311+112del
ENST00000520113.6:c.1323+106_1323+112del ENSP00000430075.2:n.1323+106_1323+112del
NM_000036.2:c.1323+106_1323+112del NP_000027.2:n.1323+106_1323+112del
NM_001172626.1:c.1311+106_1311+112del NP_001166097.1:n.1311+106_1311+112del
NM_000036.3:c.1224+106_1224+112del MANE Select NP_000027.3:n.1224+106_1224+112del
NM_001172626.2:c.1212+106_1212+112del NP_001166097.2:n.1212+106_1212+112del