Canonical Allele Identifier: CA2674265068

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359755-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359756_75359758del , CM000667.2:g.75359756_75359758del	GRCh38
NC_000005.9:g.74655581_74655583del , CM000667.1:g.74655581_74655583del	GRCh37
NC_000005.8:g.74691337_74691339del	NCBI36
NG_011449.1:g.27589_27591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2457+200_2457+202del (HMGCR) MANE Select	ENSP00000287936.4:n.2457+200_2457+202del
ENST00000644912.1:c.1670-2746_1670-2744del (CERT1)	ENSP00000495172.1:n.1670-2746_1670-2744del
ENST00000646172.1:c.1203-2746_1203-2744del (CERT1)	ENSP00000494969.1:n.1203-2746_1203-2744del
ENST00000679456.1:n.3294+200_3294+202del (HMGCR)
ENST00000680160.1:c.2413-229_2413-227del (HMGCR)	ENSP00000505315.1:n.2413-229_2413-227del
ENST00000680940.1:c.2457+200_2457+202del (HMGCR)	ENSP00000505561.1:n.2457+200_2457+202del
ENST00000681271.1:c.2457+200_2457+202del (HMGCR)	ENSP00000505805.1:n.2457+200_2457+202del
ENST00000681410.1:c.2457+200_2457+202del (HMGCR)	ENSP00000506232.1:n.2457+200_2457+202del
ENST00000681567.1:c.*3006+200_*3006+202del (HMGCR)	ENSP00000506708.1:n.*3006+200_*3006+202del
ENST00000287936.8:c.2457+200_2457+202del (HMGCR)	ENSP00000287936.4:n.2457+200_2457+202del
ENST00000343975.9:c.2298+200_2298+202del (HMGCR)	ENSP00000340816.5:n.2298+200_2298+202del
ENST00000509085.5:c.288-229_288-227del (HMGCR)
ENST00000511206.5:c.2457+200_2457+202del (HMGCR)	ENSP00000426745.1:n.2457+200_2457+202del
ENST00000511986.1:c.139-229_139-227del (HMGCR)	ENSP00000420871.1:n.139-229_139-227del
ENST00000514315.2:n.598_600del (HMGCR)
NM_000859.2:c.2457+200_2457+202del (HMGCR)	NP_000850.1:n.2457+200_2457+202del
NM_001130996.1:c.2298+200_2298+202del (HMGCR)	NP_001124468.1:n.2298+200_2298+202del
XM_011543357.1:c.2517+200_2517+202del (HMGCR)	XP_011541659.1:n.2517+200_2517+202del
XM_011543358.1:c.2457+200_2457+202del (HMGCR)	XP_011541660.1:n.2457+200_2457+202del
XM_011543359.1:c.2358+200_2358+202del (HMGCR)	XP_011541661.1:n.2358+200_2358+202del
NM_001364187.1:c.2457+200_2457+202del (HMGCR)	NP_001351116.1:n.2457+200_2457+202del
NM_000859.3:c.2457+200_2457+202del (HMGCR) MANE Select	NP_000850.1:n.2457+200_2457+202del
NM_001130996.2:c.2298+200_2298+202del (HMGCR)	NP_001124468.1:n.2298+200_2298+202del