Canonical Allele Identifier: CA145619
Gene: AMPD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114688746_114688749del , CM000663.2:g.114688746_114688749del GRCh38
NC_000001.10:g.115231367_115231370del , CM000663.1:g.115231367_115231370del GRCh37
NC_000001.9:g.115032890_115032893del NCBI36
NG_008012.1:g.11808_11811del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.23-7_23-4del ENSP00000358551.4:n.23-7_23-4del
ENST00000520113.7:c.35-7_35-4del MANE Select ENSP00000430075.3:n.35-7_35-4del
ENST00000637080.1:c.38-7_38-4del ENSP00000489753.1:n.38-7_38-4del
ENST00000369538.3:c.122-7_122-4del ENSP00000358551.3:n.122-7_122-4del
ENST00000520113.6:c.134-7_134-4del ENSP00000430075.2:n.134-7_134-4del
NM_000036.2:c.134-7_134-4del NP_000027.2:n.134-7_134-4del
NM_001172626.1:c.122-7_122-4del NP_001166097.1:n.122-7_122-4del
NM_000036.3:c.35-7_35-4del MANE Select NP_000027.3:n.35-7_35-4del
NM_001172626.2:c.23-7_23-4del NP_001166097.2:n.23-7_23-4del
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