Canonical Allele Identifier: CA2745255060

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119760004_119760005insCAAAACCAAACACACCCAACAC , CM000663.2:g.119760004_119760005insCAAAACCAAACACACCCAACAC	GRCh38
NC_000001.10:g.120302627_120302628insCAAAACCAAACACACCCAACAC , CM000663.1:g.120302627_120302628insCAAAACCAAACACACCCAACAC	GRCh37
NC_000001.9:g.120104150_120104151insCAAAACCAAACACACCCAACAC	NCBI36
NG_013348.1:g.13928_13929insGTGTTGGGTGTGTTTGGTTTTG , LRG_447:g.13928_13929insGTGTTGGGTGTGTTTGGTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG MANE Select	ENSP00000358414.3:n.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG
ENST00000369406.7:c.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG	ENSP00000358414.3:n.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG
ENST00000476640.1:n.456-16_456-15insGTGTTGGGTGTGTTTGGTTTTG
ENST00000544913.2:c.560-723_560-722insGTGTTGGGTGTGTTTGGTTTTG	ENSP00000439495.2:n.560-723_560-722insGTGTTGGGTGTGTTTGGTTTTG
NM_001166107.1:c.560-723_560-722insGTGTTGGGTGTGTTTGGTTTTG , LRG_447t2:c.560-723_560-722insGTGTTGGGTGTGTTTGGTTTTG	NP_001159579.1:n.560-723_560-722insGTGTTGGGTGTGTTTGGTTTTG
NM_005518.3:c.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG , LRG_447t1:c.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG	NP_005509.1:n.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG
XM_011541313.1:c.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG	XP_011539615.1:n.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG
XM_011541313.2:c.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG	XP_011539615.1:n.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG
NM_005518.4:c.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG MANE Select	NP_005509.1:n.560-16_560-15insGTGTTGGGTGTGTTTGGTTTTG