Canonical Allele Identifier: CA2674265161

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359866-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359866_75359867insA , CM000667.2:g.75359866_75359867insA	GRCh38
NC_000005.9:g.74655691_74655692insA , CM000667.1:g.74655691_74655692insA	GRCh37
NC_000005.8:g.74691447_74691448insA	NCBI36
NG_011449.1:g.27699_27700insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2458-119_2458-118insA (HMGCR) MANE Select	ENSP00000287936.4:n.2458-119_2458-118insA
ENST00000644912.1:c.1670-2855_1670-2854insT (CERT1)	ENSP00000495172.1:n.1670-2855_1670-2854insT
ENST00000646172.1:c.1203-2855_1203-2854insT (CERT1)	ENSP00000494969.1:n.1203-2855_1203-2854insT
ENST00000679456.1:n.3295-119_3295-118insA (HMGCR)
ENST00000680160.1:c.2413-119_2413-118insA (HMGCR)	ENSP00000505315.1:n.2413-119_2413-118insA
ENST00000680940.1:c.2458-119_2458-118insA (HMGCR)	ENSP00000505561.1:n.2458-119_2458-118insA
ENST00000681271.1:c.2458-119_2458-118insA (HMGCR)	ENSP00000505805.1:n.2458-119_2458-118insA
ENST00000681410.1:c.2458-119_2458-118insA (HMGCR)	ENSP00000506232.1:n.2458-119_2458-118insA
ENST00000681567.1:c.*3007-119_*3007-118insA (HMGCR)	ENSP00000506708.1:n.*3007-119_*3007-118insA
ENST00000287936.8:c.2458-119_2458-118insA (HMGCR)	ENSP00000287936.4:n.2458-119_2458-118insA
ENST00000343975.9:c.2299-119_2299-118insA (HMGCR)	ENSP00000340816.5:n.2299-119_2299-118insA
ENST00000509085.5:c.288-119_288-118insA (HMGCR)
ENST00000511206.5:c.2458-119_2458-118insA (HMGCR)	ENSP00000426745.1:n.2458-119_2458-118insA
ENST00000511986.1:c.139-119_139-118insA (HMGCR)	ENSP00000420871.1:n.139-119_139-118insA
NM_000859.2:c.2458-119_2458-118insA (HMGCR)	NP_000850.1:n.2458-119_2458-118insA
NM_001130996.1:c.2299-119_2299-118insA (HMGCR)	NP_001124468.1:n.2299-119_2299-118insA
XM_011543357.1:c.2518-119_2518-118insA (HMGCR)	XP_011541659.1:n.2518-119_2518-118insA
XM_011543358.1:c.2458-119_2458-118insA (HMGCR)	XP_011541660.1:n.2458-119_2458-118insA
XM_011543359.1:c.2359-119_2359-118insA (HMGCR)	XP_011541661.1:n.2359-119_2359-118insA
NM_001364187.1:c.2458-119_2458-118insA (HMGCR)	NP_001351116.1:n.2458-119_2458-118insA
NM_000859.3:c.2458-119_2458-118insA (HMGCR) MANE Select	NP_000850.1:n.2458-119_2458-118insA
NM_001130996.2:c.2299-119_2299-118insA (HMGCR)	NP_001124468.1:n.2299-119_2299-118insA