Canonical Allele Identifier: CA2674264818

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359572-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359574_75359575del , CM000667.2:g.75359574_75359575del	GRCh38
NC_000005.9:g.74655399_74655400del , CM000667.1:g.74655399_74655400del	GRCh37
NC_000005.8:g.74691155_74691156del	NCBI36
NG_011449.1:g.27407_27408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.2457+18_2457+19del (HMGCR) MANE Select	ENSP00000287936.4:n.2457+18_2457+19del
ENST00000644912.1:c.1670-2562_1670-2561del (CERT1)	ENSP00000495172.1:n.1670-2562_1670-2561de...
ENST00000646172.1:c.1203-2562_1203-2561del (CERT1)	ENSP00000494969.1:n.1203-2562_1203-2561de...
ENST00000679456.1:n.3294+18_3294+19del (HMGCR)
ENST00000680160.1:c.2412+63_2412+64del (HMGCR)	ENSP00000505315.1:n.2412+63_2412+64del
ENST00000680940.1:c.2457+18_2457+19del (HMGCR)	ENSP00000505561.1:n.2457+18_2457+19del
ENST00000681271.1:c.2457+18_2457+19del (HMGCR)	ENSP00000505805.1:n.2457+18_2457+19del
ENST00000681410.1:c.2457+18_2457+19del (HMGCR)	ENSP00000506232.1:n.2457+18_2457+19del
ENST00000681567.1:c.*3006+18_*3006+19del (HMGCR)	ENSP00000506708.1:n.*3006+18_*3006+19del
ENST00000287936.8:c.2457+18_2457+19del (HMGCR)	ENSP00000287936.4:n.2457+18_2457+19del
ENST00000343975.9:c.2298+18_2298+19del (HMGCR)	ENSP00000340816.5:n.2298+18_2298+19del
ENST00000509085.5:c.287+264_287+265del (HMGCR)
ENST00000511206.5:c.2457+18_2457+19del (HMGCR)	ENSP00000426745.1:n.2457+18_2457+19del
ENST00000511986.1:c.139-411_139-410del (HMGCR)	ENSP00000420871.1:n.139-411_139-410del
ENST00000514315.2:n.416_417del (HMGCR)
NM_000859.2:c.2457+18_2457+19del (HMGCR)	NP_000850.1:n.2457+18_2457+19del
NM_001130996.1:c.2298+18_2298+19del (HMGCR)	NP_001124468.1:n.2298+18_2298+19del
XM_011543357.1:c.2517+18_2517+19del (HMGCR)	XP_011541659.1:n.2517+18_2517+19del
XM_011543358.1:c.2457+18_2457+19del (HMGCR)	XP_011541660.1:n.2457+18_2457+19del
XM_011543359.1:c.2358+18_2358+19del (HMGCR)	XP_011541661.1:n.2358+18_2358+19del
NM_001364187.1:c.2457+18_2457+19del (HMGCR)	NP_001351116.1:n.2457+18_2457+19del
NM_000859.3:c.2457+18_2457+19del (HMGCR) MANE Select	NP_000850.1:n.2457+18_2457+19del
NM_001130996.2:c.2298+18_2298+19del (HMGCR)	NP_001124468.1:n.2298+18_2298+19del