Canonical Allele Identifier: CA2647247355
Gene: AMPD1 HGNC NCBI

Linked Data

gnomAD v4: 1-114677618-A-AGGAAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677618_114677619insGGAAG , CM000663.2:g.114677618_114677619insGGAAG GRCh38
NC_000001.10:g.115220239_115220240insGGAAG , CM000663.1:g.115220239_115220240insGGAAG GRCh37
NC_000001.9:g.115021762_115021763insGGAAG NCBI36
NG_008012.1:g.22937_22938insCTTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1213-105_1213-104insCTTCC ENSP00000358551.4:n.1213-105_1213-104insCTTCC
ENST00000520113.7:c.1225-105_1225-104insCTTCC MANE Select ENSP00000430075.3:n.1225-105_1225-104insCTTCC
ENST00000637080.1:c.1008-105_1008-104insCTTCC ENSP00000489753.1:n.1008-105_1008-104insCTTCC
ENST00000639077.1:n.890-105_890-104insCTTCC
ENST00000369538.3:c.1312-105_1312-104insCTTCC ENSP00000358551.3:n.1312-105_1312-104insCTTCC
ENST00000520113.6:c.1324-105_1324-104insCTTCC ENSP00000430075.2:n.1324-105_1324-104insCTTCC
NM_000036.2:c.1324-105_1324-104insCTTCC NP_000027.2:n.1324-105_1324-104insCTTCC
NM_001172626.1:c.1312-105_1312-104insCTTCC NP_001166097.1:n.1312-105_1312-104insCTTCC
NM_000036.3:c.1225-105_1225-104insCTTCC MANE Select NP_000027.3:n.1225-105_1225-104insCTTCC
NM_001172626.2:c.1213-105_1213-104insCTTCC NP_001166097.2:n.1213-105_1213-104insCTTCC
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