Canonical Allele Identifier: CA2696723484
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677806_114677815del , CM000663.2:g.114677806_114677815del GRCh38
NC_000001.10:g.115220427_115220436del , CM000663.1:g.115220427_115220436del GRCh37
NC_000001.9:g.115021950_115021959del NCBI36
NG_008012.1:g.22741_22750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+95_1212+104del ENSP00000358551.4:n.1212+95_1212+104del
ENST00000520113.7:c.1224+95_1224+104del MANE Select ENSP00000430075.3:n.1224+95_1224+104del
ENST00000637080.1:c.1007+95_1007+104del ENSP00000489753.1:n.1007+95_1007+104del
ENST00000639077.1:n.889+95_889+104del
ENST00000369538.3:c.1311+95_1311+104del ENSP00000358551.3:n.1311+95_1311+104del
ENST00000520113.6:c.1323+95_1323+104del ENSP00000430075.2:n.1323+95_1323+104del
NM_000036.2:c.1323+95_1323+104del NP_000027.2:n.1323+95_1323+104del
NM_001172626.1:c.1311+95_1311+104del NP_001166097.1:n.1311+95_1311+104del
NM_000036.3:c.1224+95_1224+104del MANE Select NP_000027.3:n.1224+95_1224+104del
NM_001172626.2:c.1212+95_1212+104del NP_001166097.2:n.1212+95_1212+104del