Canonical Allele Identifier: CA2674264868

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359610-CTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359614_75359617del , CM000667.2:g.75359614_75359617del	GRCh38
NC_000005.9:g.74655439_74655442del , CM000667.1:g.74655439_74655442del	GRCh37
NC_000005.8:g.74691195_74691198del	NCBI36
NG_011449.1:g.27447_27450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2457+58_2457+61del (HMGCR) MANE Select	ENSP00000287936.4:n.2457+58_2457+61del
ENST00000644912.1:c.1670-2602_1670-2599del (CERT1)	ENSP00000495172.1:n.1670-2602_1670-2599del
ENST00000646172.1:c.1203-2602_1203-2599del (CERT1)	ENSP00000494969.1:n.1203-2602_1203-2599del
ENST00000679456.1:n.3294+58_3294+61del (HMGCR)
ENST00000680160.1:c.2412+103_2412+106del (HMGCR)	ENSP00000505315.1:n.2412+103_2412+106del
ENST00000680940.1:c.2457+58_2457+61del (HMGCR)	ENSP00000505561.1:n.2457+58_2457+61del
ENST00000681271.1:c.2457+58_2457+61del (HMGCR)	ENSP00000505805.1:n.2457+58_2457+61del
ENST00000681410.1:c.2457+58_2457+61del (HMGCR)	ENSP00000506232.1:n.2457+58_2457+61del
ENST00000681567.1:c.*3006+58_*3006+61del (HMGCR)	ENSP00000506708.1:n.*3006+58_*3006+61del
ENST00000287936.8:c.2457+58_2457+61del (HMGCR)	ENSP00000287936.4:n.2457+58_2457+61del
ENST00000343975.9:c.2298+58_2298+61del (HMGCR)	ENSP00000340816.5:n.2298+58_2298+61del
ENST00000509085.5:c.287+304_287+307del (HMGCR)
ENST00000511206.5:c.2457+58_2457+61del (HMGCR)	ENSP00000426745.1:n.2457+58_2457+61del
ENST00000511986.1:c.139-371_139-368del (HMGCR)	ENSP00000420871.1:n.139-371_139-368del
ENST00000514315.2:n.456_459del (HMGCR)
NM_000859.2:c.2457+58_2457+61del (HMGCR)	NP_000850.1:n.2457+58_2457+61del
NM_001130996.1:c.2298+58_2298+61del (HMGCR)	NP_001124468.1:n.2298+58_2298+61del
XM_011543357.1:c.2517+58_2517+61del (HMGCR)	XP_011541659.1:n.2517+58_2517+61del
XM_011543358.1:c.2457+58_2457+61del (HMGCR)	XP_011541660.1:n.2457+58_2457+61del
XM_011543359.1:c.2358+58_2358+61del (HMGCR)	XP_011541661.1:n.2358+58_2358+61del
NM_001364187.1:c.2457+58_2457+61del (HMGCR)	NP_001351116.1:n.2457+58_2457+61del
NM_000859.3:c.2457+58_2457+61del (HMGCR) MANE Select	NP_000850.1:n.2457+58_2457+61del
NM_001130996.2:c.2298+58_2298+61del (HMGCR)	NP_001124468.1:n.2298+58_2298+61del