Canonical Allele Identifier: CA2647247354
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114677617-A-AAGG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677618_114677619insGGA , CM000663.2:g.114677618_114677619insGGA GRCh38
NC_000001.10:g.115220239_115220240insGGA , CM000663.1:g.115220239_115220240insGGA GRCh37
NC_000001.9:g.115021762_115021763insGGA NCBI36
NG_008012.1:g.22938_22939insCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1213-104_1213-103insCCT ENSP00000358551.4:n.1213-104_1213-103insCCT
ENST00000520113.7:c.1225-104_1225-103insCCT MANE Select ENSP00000430075.3:n.1225-104_1225-103insCCT
ENST00000637080.1:c.1008-104_1008-103insCCT ENSP00000489753.1:n.1008-104_1008-103insCCT
ENST00000639077.1:n.890-104_890-103insCCT
ENST00000369538.3:c.1312-104_1312-103insCCT ENSP00000358551.3:n.1312-104_1312-103insCCT
ENST00000520113.6:c.1324-104_1324-103insCCT ENSP00000430075.2:n.1324-104_1324-103insCCT
NM_000036.2:c.1324-104_1324-103insCCT NP_000027.2:n.1324-104_1324-103insCCT
NM_001172626.1:c.1312-104_1312-103insCCT NP_001166097.1:n.1312-104_1312-103insCCT
NM_000036.3:c.1225-104_1225-103insCCT MANE Select NP_000027.3:n.1225-104_1225-103insCCT
NM_001172626.2:c.1213-104_1213-103insCCT NP_001166097.2:n.1213-104_1213-103insCCT
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