Canonical Allele Identifier: CA813930615

Gene: HMGCR CERT1

Linked Data

• dbSNP Id: rs1281136104
• gnomAD v4: 5-75359597-ACT-A
• MyVariant Identifiers: chr5:g.74655423_74655424del (hg19) ; chr5:g.75359598_75359599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359602_75359603del , CM000667.2:g.75359602_75359603del	GRCh38
NC_000005.9:g.74655427_74655428del , CM000667.1:g.74655427_74655428del	GRCh37
NC_000005.8:g.74691183_74691184del	NCBI36
NG_011449.1:g.27435_27436del

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.2457+46_2457+47del (HMGCR) MANE Select	ENSP00000287936.4:n.2457+46_2457+47del
ENST00000644912.1:c.1670-2587_1670-2586del (CERT1)	ENSP00000495172.1:n.1670-2587_1670-2586de...
ENST00000646172.1:c.1203-2587_1203-2586del (CERT1)	ENSP00000494969.1:n.1203-2587_1203-2586de...
ENST00000679456.1:n.3294+46_3294+47del (HMGCR)
ENST00000680160.1:c.2412+91_2412+92del (HMGCR)	ENSP00000505315.1:n.2412+91_2412+92del
ENST00000680940.1:c.2457+46_2457+47del (HMGCR)	ENSP00000505561.1:n.2457+46_2457+47del
ENST00000681271.1:c.2457+46_2457+47del (HMGCR)	ENSP00000505805.1:n.2457+46_2457+47del
ENST00000681410.1:c.2457+46_2457+47del (HMGCR)	ENSP00000506232.1:n.2457+46_2457+47del
ENST00000681567.1:c.*3006+46_*3006+47del (HMGCR)	ENSP00000506708.1:n.*3006+46_*3006+47del
ENST00000287936.8:c.2457+46_2457+47del (HMGCR)	ENSP00000287936.4:n.2457+46_2457+47del
ENST00000343975.9:c.2298+46_2298+47del (HMGCR)	ENSP00000340816.5:n.2298+46_2298+47del
ENST00000509085.5:c.287+292_287+293del (HMGCR)
ENST00000511206.5:c.2457+46_2457+47del (HMGCR)	ENSP00000426745.1:n.2457+46_2457+47del
ENST00000511986.1:c.139-383_139-382del (HMGCR)	ENSP00000420871.1:n.139-383_139-382del
ENST00000514315.2:n.444_445del (HMGCR)
NM_000859.2:c.2457+46_2457+47del (HMGCR)	NP_000850.1:n.2457+46_2457+47del
NM_001130996.1:c.2298+46_2298+47del (HMGCR)	NP_001124468.1:n.2298+46_2298+47del
XM_011543357.1:c.2517+46_2517+47del (HMGCR)	XP_011541659.1:n.2517+46_2517+47del
XM_011543358.1:c.2457+46_2457+47del (HMGCR)	XP_011541660.1:n.2457+46_2457+47del
XM_011543359.1:c.2358+46_2358+47del (HMGCR)	XP_011541661.1:n.2358+46_2358+47del
NM_001364187.1:c.2457+46_2457+47del (HMGCR)	NP_001351116.1:n.2457+46_2457+47del
NM_000859.3:c.2457+46_2457+47del (HMGCR) MANE Select	NP_000850.1:n.2457+46_2457+47del
NM_001130996.2:c.2298+46_2298+47del (HMGCR)	NP_001124468.1:n.2298+46_2298+47del