Canonical Allele Identifier: CA2647247686
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114677820-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677822del , CM000663.2:g.114677822del GRCh38
NC_000001.10:g.115220443del , CM000663.1:g.115220443del GRCh37
NC_000001.9:g.115021966del NCBI36
NG_008012.1:g.22735del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+89del ENSP00000358551.4:n.1212+89del
ENST00000520113.7:c.1224+89del MANE Select ENSP00000430075.3:n.1224+89del
ENST00000637080.1:c.1007+89del ENSP00000489753.1:n.1007+89del
ENST00000639077.1:n.889+89del
ENST00000369538.3:c.1311+89del ENSP00000358551.3:n.1311+89del
ENST00000520113.6:c.1323+89del ENSP00000430075.2:n.1323+89del
NM_000036.2:c.1323+89del NP_000027.2:n.1323+89del
NM_001172626.1:c.1311+89del NP_001166097.1:n.1311+89del
NM_000036.3:c.1224+89del MANE Select NP_000027.3:n.1224+89del
NM_001172626.2:c.1212+89del NP_001166097.2:n.1212+89del
Search 100 bp 5'
Search 100 bp 3'