Canonical Allele Identifier: CA2574035127
Gene: AMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677531del , CM000663.2:g.114677531del GRCh38
NC_000001.10:g.115220152del , CM000663.1:g.115220152del GRCh37
NC_000001.9:g.115021675del NCBI36
NG_008012.1:g.23025del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1213-17del ENSP00000358551.4:n.1213-17del
ENST00000520113.7:c.1225-17del MANE Select ENSP00000430075.3:n.1225-17del
ENST00000637080.1:c.1008-17del ENSP00000489753.1:n.1008-17del
ENST00000639077.1:n.890-17del
ENST00000369538.3:c.1312-17del ENSP00000358551.3:n.1312-17del
ENST00000520113.6:c.1324-17del ENSP00000430075.2:n.1324-17del
NM_000036.2:c.1324-17del NP_000027.2:n.1324-17del
NM_001172626.1:c.1312-17del NP_001166097.1:n.1312-17del
NM_000036.3:c.1225-17del MANE Select NP_000027.3:n.1225-17del
NM_001172626.2:c.1213-17del NP_001166097.2:n.1213-17del