Canonical Allele Identifier: CA2674265081

Gene: HMGCR CERT1

Linked Data

• gnomAD v4: 5-75359768-A-AAGCTTATG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75359768_75359769insAGCTTATG , CM000667.2:g.75359768_75359769insAGCTTATG	GRCh38
NC_000005.9:g.74655593_74655594insAGCTTATG , CM000667.1:g.74655593_74655594insAGCTTATG	GRCh37
NC_000005.8:g.74691349_74691350insAGCTTATG	NCBI36
NG_011449.1:g.27601_27602insAGCTTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.2457+212_2457+213insAGCTTATG (HMGCR) MANE Select	ENSP00000287936.4:n.2457+212_2457+213insAGCTTATG
ENST00000644912.1:c.1670-2757_1670-2756insCATAAGCT (CERT1)	ENSP00000495172.1:n.1670-2757_1670-2756insCATAAGCT
ENST00000646172.1:c.1203-2757_1203-2756insCATAAGCT (CERT1)	ENSP00000494969.1:n.1203-2757_1203-2756insCATAAGCT
ENST00000679456.1:n.3294+212_3294+213insAGCTTATG (HMGCR)
ENST00000680160.1:c.2413-217_2413-216insAGCTTATG (HMGCR)	ENSP00000505315.1:n.2413-217_2413-216insAGCTTATG
ENST00000680940.1:c.2457+212_2457+213insAGCTTATG (HMGCR)	ENSP00000505561.1:n.2457+212_2457+213insAGCTTATG
ENST00000681271.1:c.2457+212_2457+213insAGCTTATG (HMGCR)	ENSP00000505805.1:n.2457+212_2457+213insAGCTTATG
ENST00000681410.1:c.2457+212_2457+213insAGCTTATG (HMGCR)	ENSP00000506232.1:n.2457+212_2457+213insAGCTTATG
ENST00000681567.1:c.*3006+212_*3006+213insAGCTTATG (HMGCR)	ENSP00000506708.1:n.*3006+212_*3006+213insAGCTTATG
ENST00000287936.8:c.2457+212_2457+213insAGCTTATG (HMGCR)	ENSP00000287936.4:n.2457+212_2457+213insAGCTTATG
ENST00000343975.9:c.2298+212_2298+213insAGCTTATG (HMGCR)	ENSP00000340816.5:n.2298+212_2298+213insAGCTTATG
ENST00000509085.5:c.288-217_288-216insAGCTTATG (HMGCR)
ENST00000511206.5:c.2457+212_2457+213insAGCTTATG (HMGCR)	ENSP00000426745.1:n.2457+212_2457+213insAGCTTATG
ENST00000511986.1:c.139-217_139-216insAGCTTATG (HMGCR)	ENSP00000420871.1:n.139-217_139-216insAGCTTATG
NM_000859.2:c.2457+212_2457+213insAGCTTATG (HMGCR)	NP_000850.1:n.2457+212_2457+213insAGCTTATG
NM_001130996.1:c.2298+212_2298+213insAGCTTATG (HMGCR)	NP_001124468.1:n.2298+212_2298+213insAGCTTATG
XM_011543357.1:c.2517+212_2517+213insAGCTTATG (HMGCR)	XP_011541659.1:n.2517+212_2517+213insAGCTTATG
XM_011543358.1:c.2457+212_2457+213insAGCTTATG (HMGCR)	XP_011541660.1:n.2457+212_2457+213insAGCTTATG
XM_011543359.1:c.2358+212_2358+213insAGCTTATG (HMGCR)	XP_011541661.1:n.2358+212_2358+213insAGCTTATG
NM_001364187.1:c.2457+212_2457+213insAGCTTATG (HMGCR)	NP_001351116.1:n.2457+212_2457+213insAGCTTATG
NM_000859.3:c.2457+212_2457+213insAGCTTATG (HMGCR) MANE Select	NP_000850.1:n.2457+212_2457+213insAGCTTATG
NM_001130996.2:c.2298+212_2298+213insAGCTTATG (HMGCR)	NP_001124468.1:n.2298+212_2298+213insAGCTTATG