Canonical Allele Identifier: CA2647247350
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114677604-TTTCAGAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677606_114677612del , CM000663.2:g.114677606_114677612del GRCh38
NC_000001.10:g.115220227_115220233del , CM000663.1:g.115220227_115220233del GRCh37
NC_000001.9:g.115021750_115021756del NCBI36
NG_008012.1:g.22945_22951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1213-97_1213-91del ENSP00000358551.4:n.1213-97_1213-91del
ENST00000520113.7:c.1225-97_1225-91del MANE Select ENSP00000430075.3:n.1225-97_1225-91del
ENST00000637080.1:c.1008-97_1008-91del ENSP00000489753.1:n.1008-97_1008-91del
ENST00000639077.1:n.890-97_890-91del
ENST00000369538.3:c.1312-97_1312-91del ENSP00000358551.3:n.1312-97_1312-91del
ENST00000520113.6:c.1324-97_1324-91del ENSP00000430075.2:n.1324-97_1324-91del
NM_000036.2:c.1324-97_1324-91del NP_000027.2:n.1324-97_1324-91del
NM_001172626.1:c.1312-97_1312-91del NP_001166097.1:n.1312-97_1312-91del
NM_000036.3:c.1225-97_1225-91del MANE Select NP_000027.3:n.1225-97_1225-91del
NM_001172626.2:c.1213-97_1213-91del NP_001166097.2:n.1213-97_1213-91del
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