Canonical Allele Identifier: CA2647400500

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119759538-G-GGAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759538_119759539insGAAAAAAAA , CM000663.2:g.119759538_119759539insGAAAAAAAA	GRCh38
NC_000001.10:g.120302161_120302162insGAAAAAAAA , CM000663.1:g.120302161_120302162insGAAAAAAAA	GRCh37
NC_000001.9:g.120103684_120103685insGAAAAAAAA	NCBI36
NG_013348.1:g.14394_14395insTTTTTTTTC , LRG_447:g.14394_14395insTTTTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.686-257_686-256insTTTTTTTTC MANE Select	ENSP00000358414.3:n.686-257_686-256insTTTTTTTTC
ENST00000369406.7:c.686-257_686-256insTTTTTTTTC	ENSP00000358414.3:n.686-257_686-256insTTTTTTTTC
ENST00000476640.1:n.581+325_581+326insTTTTTTTTC
ENST00000544913.2:c.560-257_560-256insTTTTTTTTC	ENSP00000439495.2:n.560-257_560-256insTTTTTTTTC
NM_001166107.1:c.560-257_560-256insTTTTTTTTC , LRG_447t2:c.560-257_560-256insTTTTTTTTC	NP_001159579.1:n.560-257_560-256insTTTTTTTTC
NM_005518.3:c.686-257_686-256insTTTTTTTTC , LRG_447t1:c.686-257_686-256insTTTTTTTTC	NP_005509.1:n.686-257_686-256insTTTTTTTTC
XM_011541313.1:c.685+325_685+326insTTTTTTTTC	XP_011539615.1:n.685+325_685+326insTTTTTTTTC
XM_011541313.2:c.685+325_685+326insTTTTTTTTC	XP_011539615.1:n.685+325_685+326insTTTTTTTTC
NM_005518.4:c.686-257_686-256insTTTTTTTTC MANE Select	NP_005509.1:n.686-257_686-256insTTTTTTTTC