Canonical Allele Identifier: CA2674264903

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359626-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359628_75359629del , CM000667.2:g.75359628_75359629del	GRCh38
NC_000005.9:g.74655453_74655454del , CM000667.1:g.74655453_74655454del	GRCh37
NC_000005.8:g.74691209_74691210del	NCBI36
NG_011449.1:g.27461_27462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2457+72_2457+73del (HMGCR) MANE Select	ENSP00000287936.4:n.2457+72_2457+73del
ENST00000644912.1:c.1670-2616_1670-2615del (CERT1)	ENSP00000495172.1:n.1670-2616_1670-2615del
ENST00000646172.1:c.1203-2616_1203-2615del (CERT1)	ENSP00000494969.1:n.1203-2616_1203-2615del
ENST00000679456.1:n.3294+72_3294+73del (HMGCR)
ENST00000680160.1:c.2412+117_2412+118del (HMGCR)	ENSP00000505315.1:n.2412+117_2412+118del
ENST00000680940.1:c.2457+72_2457+73del (HMGCR)	ENSP00000505561.1:n.2457+72_2457+73del
ENST00000681271.1:c.2457+72_2457+73del (HMGCR)	ENSP00000505805.1:n.2457+72_2457+73del
ENST00000681410.1:c.2457+72_2457+73del (HMGCR)	ENSP00000506232.1:n.2457+72_2457+73del
ENST00000681567.1:c.*3006+72_*3006+73del (HMGCR)	ENSP00000506708.1:n.*3006+72_*3006+73del
ENST00000287936.8:c.2457+72_2457+73del (HMGCR)	ENSP00000287936.4:n.2457+72_2457+73del
ENST00000343975.9:c.2298+72_2298+73del (HMGCR)	ENSP00000340816.5:n.2298+72_2298+73del
ENST00000509085.5:c.287+318_287+319del (HMGCR)
ENST00000511206.5:c.2457+72_2457+73del (HMGCR)	ENSP00000426745.1:n.2457+72_2457+73del
ENST00000511986.1:c.139-357_139-356del (HMGCR)	ENSP00000420871.1:n.139-357_139-356del
ENST00000514315.2:n.470_471del (HMGCR)
NM_000859.2:c.2457+72_2457+73del (HMGCR)	NP_000850.1:n.2457+72_2457+73del
NM_001130996.1:c.2298+72_2298+73del (HMGCR)	NP_001124468.1:n.2298+72_2298+73del
XM_011543357.1:c.2517+72_2517+73del (HMGCR)	XP_011541659.1:n.2517+72_2517+73del
XM_011543358.1:c.2457+72_2457+73del (HMGCR)	XP_011541660.1:n.2457+72_2457+73del
XM_011543359.1:c.2358+72_2358+73del (HMGCR)	XP_011541661.1:n.2358+72_2358+73del
NM_001364187.1:c.2457+72_2457+73del (HMGCR)	NP_001351116.1:n.2457+72_2457+73del
NM_000859.3:c.2457+72_2457+73del (HMGCR) MANE Select	NP_000850.1:n.2457+72_2457+73del
NM_001130996.2:c.2298+72_2298+73del (HMGCR)	NP_001124468.1:n.2298+72_2298+73del