Canonical Allele Identifier: CA1556074986

Gene: HMGCR CERT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359620_75359622delinsCTG , CM000667.2:g.75359620_75359622delinsCTG	GRCh38
NC_000005.9:g.74655445_74655447delinsCTG , CM000667.1:g.74655445_74655447delinsCTG	GRCh37
NC_000005.8:g.74691201_74691203delinsCTG	NCBI36
NG_011449.1:g.27453_27455delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.2457+64_2457+66delinsCTG (HMGCR) MANE Select	ENSP00000287936.4:n.2457+64_2457+66delinsCTG
ENST00000644912.1:c.1670-2610_1670-2608delinsCAG (CERT1)	ENSP00000495172.1:n.1670-2610_1670-2608delinsCAG
ENST00000646172.1:c.1203-2610_1203-2608delinsCAG (CERT1)	ENSP00000494969.1:n.1203-2610_1203-2608delinsCAG
ENST00000679456.1:n.3294+64_3294+66delinsCTG (HMGCR)
ENST00000680160.1:c.2412+109_2412+111delinsCTG (HMGCR)	ENSP00000505315.1:n.2412+109_2412+111delinsCTG
ENST00000680940.1:c.2457+64_2457+66delinsCTG (HMGCR)	ENSP00000505561.1:n.2457+64_2457+66delinsCTG
ENST00000681271.1:c.2457+64_2457+66delinsCTG (HMGCR)	ENSP00000505805.1:n.2457+64_2457+66delinsCTG
ENST00000681410.1:c.2457+64_2457+66delinsCTG (HMGCR)	ENSP00000506232.1:n.2457+64_2457+66delinsCTG
ENST00000681567.1:c.*3006+64_*3006+66delinsCTG (HMGCR)	ENSP00000506708.1:n.*3006+64_*3006+66delinsCTG
ENST00000287936.8:c.2457+64_2457+66delinsCTG (HMGCR)	ENSP00000287936.4:n.2457+64_2457+66delinsCTG
ENST00000343975.9:c.2298+64_2298+66delinsCTG (HMGCR)	ENSP00000340816.5:n.2298+64_2298+66delinsCTG
ENST00000509085.5:c.287+310_287+312delinsCTG (HMGCR)
ENST00000511206.5:c.2457+64_2457+66delinsCTG (HMGCR)	ENSP00000426745.1:n.2457+64_2457+66delinsCTG
ENST00000511986.1:c.139-365_139-363delinsCTG (HMGCR)	ENSP00000420871.1:n.139-365_139-363delinsCTG
ENST00000514315.2:n.462_464delinsCTG (HMGCR)
NM_000859.2:c.2457+64_2457+66delinsCTG (HMGCR)	NP_000850.1:n.2457+64_2457+66delinsCTG
NM_001130996.1:c.2298+64_2298+66delinsCTG (HMGCR)	NP_001124468.1:n.2298+64_2298+66delinsCTG
XM_011543357.1:c.2517+64_2517+66delinsCTG (HMGCR)	XP_011541659.1:n.2517+64_2517+66delinsCTG
XM_011543358.1:c.2457+64_2457+66delinsCTG (HMGCR)	XP_011541660.1:n.2457+64_2457+66delinsCTG
XM_011543359.1:c.2358+64_2358+66delinsCTG (HMGCR)	XP_011541661.1:n.2358+64_2358+66delinsCTG
NM_001364187.1:c.2457+64_2457+66delinsCTG (HMGCR)	NP_001351116.1:n.2457+64_2457+66delinsCTG
NM_000859.3:c.2457+64_2457+66delinsCTG (HMGCR) MANE Select	NP_000850.1:n.2457+64_2457+66delinsCTG
NM_001130996.2:c.2298+64_2298+66delinsCTG (HMGCR)	NP_001124468.1:n.2298+64_2298+66delinsCTG