Canonical Allele Identifier: CA1190276517
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1658042147
gnomAD v4: 1-114677817-CCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677818_114677819del , CM000663.2:g.114677818_114677819del GRCh38
NC_000001.10:g.115220439_115220440del , CM000663.1:g.115220439_115220440del GRCh37
NC_000001.9:g.115021962_115021963del NCBI36
NG_008012.1:g.22737_22738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+91_1212+92del ENSP00000358551.4:n.1212+91_1212+92del
ENST00000520113.7:c.1224+91_1224+92del MANE Select ENSP00000430075.3:n.1224+91_1224+92del
ENST00000637080.1:c.1007+91_1007+92del ENSP00000489753.1:n.1007+91_1007+92del
ENST00000639077.1:n.889+91_889+92del
ENST00000369538.3:c.1311+91_1311+92del ENSP00000358551.3:n.1311+91_1311+92del
ENST00000520113.6:c.1323+91_1323+92del ENSP00000430075.2:n.1323+91_1323+92del
NM_000036.2:c.1323+91_1323+92del NP_000027.2:n.1323+91_1323+92del
NM_001172626.1:c.1311+91_1311+92del NP_001166097.1:n.1311+91_1311+92del
NM_000036.3:c.1224+91_1224+92del MANE Select NP_000027.3:n.1224+91_1224+92del
NM_001172626.2:c.1212+91_1212+92del NP_001166097.2:n.1212+91_1212+92del
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