Canonical Allele Identifier: CA1005999444
Gene: AMPD1 HGNC NCBI
gnomAD v3:
1:114677799 C / CTCCTTCCTTCCTTCCTTCCTTCCTTCCT
gnomAD v4:
chr1-114677799-C-CTCCTTCCTTCCTTCCTTCCTTCCTTCCT
Joint Max Group AF 0.0026459 (SAS)
Genomes Max Group AF 0.00014698 (SAS)
Exomes Max Group AF 0.00272625 (SAS)
dbSNP:
61401956
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677826_114677853dup , CM000663.2:g.114677826_114677853dup GRCh38
NC_000001.10:g.115220447_115220474dup , CM000663.1:g.115220447_115220474dup GRCh37
NC_000001.9:g.115021970_115021997dup NCBI36
NG_008012.1:g.22729_22756dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1212+83_1212+110dup ENSP00000358551.4:n.1212+83_1212+110dup
ENST00000520113.7:c.1224+83_1224+110dup MANE Select ENSP00000430075.3:n.1224+83_1224+110dup
ENST00000637080.1:c.1007+83_1007+110dup ENSP00000489753.1:n.1007+83_1007+110dup
ENST00000639077.1:n.889+83_889+110dup
ENST00000369538.3:c.1311+83_1311+110dup ENSP00000358551.3:n.1311+83_1311+110dup
ENST00000520113.6:c.1323+83_1323+110dup ENSP00000430075.2:n.1323+83_1323+110dup
NM_000036.2:c.1323+83_1323+110dup NP_000027.2:n.1323+83_1323+110dup
NM_001172626.1:c.1311+83_1311+110dup NP_001166097.1:n.1311+83_1311+110dup
NM_000036.3:c.1224+83_1224+110dup MANE Select NP_000027.3:n.1224+83_1224+110dup
NM_001172626.2:c.1212+83_1212+110dup NP_001166097.2:n.1212+83_1212+110dup
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