Canonical Allele Identifier: CA645556065

Gene: HMGCR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75354656_75354658del , CM000667.2:g.75354656_75354658del	GRCh38
NC_000005.9:g.74650481_74650483del , CM000667.1:g.74650481_74650483del	GRCh37
NC_000005.8:g.74686237_74686239del	NCBI36
NG_011449.1:g.22489_22491del

Transcript Alleles

HGVS	Amino-acid Change
NM_000859.3:c.1522_1524del MANE Select	NP_000850.1:p.Ser508del
ENST00000287936.9:c.1522_1524del MANE Select	ENSP00000287936.4:p.Ser508del
NM_000859.2:c.1522_1524del	NP_000850.1:p.Ser508del
NM_001130996.1:c.1522_1524del	NP_001124468.1:p.Ser508del
NM_001130996.2:c.1522_1524del	NP_001124468.1:p.Ser508del
NM_001364187.1:c.1522_1524del	NP_001351116.1:p.Ser508del
ENST00000287936.8:c.1522_1524del	ENSP00000287936.4:p.Ser508del
ENST00000343975.9:c.1522_1524del	ENSP00000340816.5:p.Ser508del
ENST00000511206.5:c.1522_1524del	ENSP00000426745.1:p.Ser508del
ENST00000515776.1:n.349_351del
ENST00000679456.1:n.2359_2361del
ENST00000680160.1:c.1522_1524del	ENSP00000505315.1:p.Ser508del
ENST00000680940.1:c.1522_1524del	ENSP00000505561.1:p.Ser508del
ENST00000681271.1:c.1522_1524del	ENSP00000505805.1:p.Ser508del
ENST00000681410.1:c.1522_1524del	ENSP00000506232.1:p.Ser508del
ENST00000681567.1:c.*2071_*2073del	ENSP00000506708.1:n.*2071_*2073del
XM_011543357.1:c.1582_1584del	XP_011541659.1:p.Ser528del
XM_011543358.1:c.1522_1524del	XP_011541660.1:p.Ser508del
XM_011543359.1:c.1582_1584del	XP_011541661.1:p.Ser528del