Canonical Allele Identifier: CA2674265076

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359765-T-TAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359765_75359766insAAG , CM000667.2:g.75359765_75359766insAAG	GRCh38
NC_000005.9:g.74655590_74655591insAAG , CM000667.1:g.74655590_74655591insAAG	GRCh37
NC_000005.8:g.74691346_74691347insAAG	NCBI36
NG_011449.1:g.27598_27599insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2457+209_2457+210insAAG (HMGCR) MANE Select	ENSP00000287936.4:n.2457+209_2457+210insAAG
ENST00000644912.1:c.1670-2754_1670-2753insCTT (CERT1)	ENSP00000495172.1:n.1670-2754_1670-2753insCTT
ENST00000646172.1:c.1203-2754_1203-2753insCTT (CERT1)	ENSP00000494969.1:n.1203-2754_1203-2753insCTT
ENST00000679456.1:n.3294+209_3294+210insAAG (HMGCR)
ENST00000680160.1:c.2413-220_2413-219insAAG (HMGCR)	ENSP00000505315.1:n.2413-220_2413-219insAAG
ENST00000680940.1:c.2457+209_2457+210insAAG (HMGCR)	ENSP00000505561.1:n.2457+209_2457+210insAAG
ENST00000681271.1:c.2457+209_2457+210insAAG (HMGCR)	ENSP00000505805.1:n.2457+209_2457+210insAAG
ENST00000681410.1:c.2457+209_2457+210insAAG (HMGCR)	ENSP00000506232.1:n.2457+209_2457+210insAAG
ENST00000681567.1:c.*3006+209_*3006+210insAAG (HMGCR)	ENSP00000506708.1:n.*3006+209_*3006+210insAAG
ENST00000287936.8:c.2457+209_2457+210insAAG (HMGCR)	ENSP00000287936.4:n.2457+209_2457+210insAAG
ENST00000343975.9:c.2298+209_2298+210insAAG (HMGCR)	ENSP00000340816.5:n.2298+209_2298+210insAAG
ENST00000509085.5:c.288-220_288-219insAAG (HMGCR)
ENST00000511206.5:c.2457+209_2457+210insAAG (HMGCR)	ENSP00000426745.1:n.2457+209_2457+210insAAG
ENST00000511986.1:c.139-220_139-219insAAG (HMGCR)	ENSP00000420871.1:n.139-220_139-219insAAG
NM_000859.2:c.2457+209_2457+210insAAG (HMGCR)	NP_000850.1:n.2457+209_2457+210insAAG
NM_001130996.1:c.2298+209_2298+210insAAG (HMGCR)	NP_001124468.1:n.2298+209_2298+210insAAG
XM_011543357.1:c.2517+209_2517+210insAAG (HMGCR)	XP_011541659.1:n.2517+209_2517+210insAAG
XM_011543358.1:c.2457+209_2457+210insAAG (HMGCR)	XP_011541660.1:n.2457+209_2457+210insAAG
XM_011543359.1:c.2358+209_2358+210insAAG (HMGCR)	XP_011541661.1:n.2358+209_2358+210insAAG
NM_001364187.1:c.2457+209_2457+210insAAG (HMGCR)	NP_001351116.1:n.2457+209_2457+210insAAG
NM_000859.3:c.2457+209_2457+210insAAG (HMGCR) MANE Select	NP_000850.1:n.2457+209_2457+210insAAG
NM_001130996.2:c.2298+209_2298+210insAAG (HMGCR)	NP_001124468.1:n.2298+209_2298+210insAAG