Canonical Allele Identifier: CA2647397998
Gene: HMGCS2 HGNC NCBI

Linked Data

gnomAD v4: 1-119750724-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750732_119750733del , CM000663.2:g.119750732_119750733del GRCh38
NC_000001.10:g.120293355_120293356del , CM000663.1:g.120293355_120293356del GRCh37
NC_000001.9:g.120094878_120094879del NCBI36
NG_013348.1:g.23207_23208del , LRG_447:g.23207_23208del

Transcript Alleles

HGVS Amino-acid change
ENST00000369406.8:c.*5+71_*5+72del MANE Select ENSP00000358414.3:n.*5+71_*5+72del
ENST00000369406.7:c.*5+71_*5+72del ENSP00000358414.3:n.*5+71_*5+72del
ENST00000544913.2:c.*5+71_*5+72del ENSP00000439495.2:n.*5+71_*5+72del
NM_001166107.1:c.*5+71_*5+72del , LRG_447t2:c.*5+71_*5+72del NP_001159579.1:n.*5+71_*5+72del
NM_005518.3:c.*5+71_*5+72del , LRG_447t1:c.*5+71_*5+72del NP_005509.1:n.*5+71_*5+72del
XM_011541313.1:c.*5+71_*5+72del XP_011539615.1:n.*5+71_*5+72del
XM_011541313.2:c.*5+71_*5+72del XP_011539615.1:n.*5+71_*5+72del
NM_005518.4:c.*5+71_*5+72del MANE Select NP_005509.1:n.*5+71_*5+72del
Search 100 bp 5'
Search 100 bp 3'