Canonical Allele Identifier: CA1190276513
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1658041760
gnomAD v4: 1-114677814-CTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677815_114677816del , CM000663.2:g.114677815_114677816del GRCh38
NC_000001.10:g.115220436_115220437del , CM000663.1:g.115220436_115220437del GRCh37
NC_000001.9:g.115021959_115021960del NCBI36
NG_008012.1:g.22740_22741del

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+94_1212+95del ENSP00000358551.4:n.1212+94_1212+95del
ENST00000520113.7:c.1224+94_1224+95del MANE Select ENSP00000430075.3:n.1224+94_1224+95del
ENST00000637080.1:c.1007+94_1007+95del ENSP00000489753.1:n.1007+94_1007+95del
ENST00000639077.1:n.889+94_889+95del
ENST00000369538.3:c.1311+94_1311+95del ENSP00000358551.3:n.1311+94_1311+95del
ENST00000520113.6:c.1323+94_1323+95del ENSP00000430075.2:n.1323+94_1323+95del
NM_000036.2:c.1323+94_1323+95del NP_000027.2:n.1323+94_1323+95del
NM_001172626.1:c.1311+94_1311+95del NP_001166097.1:n.1311+94_1311+95del
NM_000036.3:c.1224+94_1224+95del MANE Select NP_000027.3:n.1224+94_1224+95del
NM_001172626.2:c.1212+94_1212+95del NP_001166097.2:n.1212+94_1212+95del
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