Canonical Allele Identifier: CA29055016
Gene: AMPD1 HGNC NCBI
dbSNP:
61401956
gnomAD v3:
1:114677799 CTCCTTCCTTCCTTCCT / C
gnomAD v4:
chr1-114677799-CTCCTTCCTTCCTTCCT-C
Joint Max Group AF 0.04009609 (SAS)
Genomes Max Group AF 0.03602522 (SAS)
Exomes Max Group AF 0.04001432 (SAS)
MyVariant.info:
GRCh38 chr1:g.114677800_114677815del
GRCh37 chr1:g.115220421_115220436del
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677838_114677853del , CM000663.2:g.114677838_114677853del GRCh38
NC_000001.10:g.115220459_115220474del , CM000663.1:g.115220459_115220474del GRCh37
NC_000001.9:g.115021982_115021997del NCBI36
NG_008012.1:g.22741_22756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+95_1212+110del ENSP00000358551.4:n.1212+95_1212+110del
ENST00000520113.7:c.1224+95_1224+110del MANE Select ENSP00000430075.3:n.1224+95_1224+110del
ENST00000637080.1:c.1007+95_1007+110del ENSP00000489753.1:n.1007+95_1007+110del
ENST00000639077.1:n.889+95_889+110del
ENST00000369538.3:c.1311+95_1311+110del ENSP00000358551.3:n.1311+95_1311+110del
ENST00000520113.6:c.1323+95_1323+110del ENSP00000430075.2:n.1323+95_1323+110del
NM_000036.2:c.1323+95_1323+110del NP_000027.2:n.1323+95_1323+110del
NM_001172626.1:c.1311+95_1311+110del NP_001166097.1:n.1311+95_1311+110del
NM_000036.3:c.1224+95_1224+110del MANE Select NP_000027.3:n.1224+95_1224+110del
NM_001172626.2:c.1212+95_1212+110del NP_001166097.2:n.1212+95_1212+110del
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