Canonical Allele Identifier: CA813983816
Gene: HMGCR HGNC NCBI

Linked Data

dbSNP Id: rs1250881486

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75352793_75352794del , CM000667.2:g.75352793_75352794del GRCh38
NC_000005.9:g.74648618_74648619del , CM000667.1:g.74648618_74648619del GRCh37
NC_000005.8:g.74684374_74684375del NCBI36
NG_011449.1:g.20626_20627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287936.9:c.1368+1191_1368+1192del MANE Select ENSP00000287936.4:n.1368+1191_1368+1192del
ENST00000679456.1:n.2205+1191_2205+1192del
ENST00000680160.1:c.1368+1191_1368+1192del ENSP00000505315.1:n.1368+1191_1368+1192del
ENST00000680940.1:c.1368+1191_1368+1192del ENSP00000505561.1:n.1368+1191_1368+1192del
ENST00000681271.1:c.1368+1191_1368+1192del ENSP00000505805.1:n.1368+1191_1368+1192del
ENST00000681410.1:c.1368+1191_1368+1192del ENSP00000506232.1:n.1368+1191_1368+1192del
ENST00000681567.1:c.*1917+1191_*1917+1192del ENSP00000506708.1:n.*1917+1191_*1917+1192del
ENST00000287936.8:c.1368+1191_1368+1192del ENSP00000287936.4:n.1368+1191_1368+1192del
ENST00000343975.9:c.1368+1191_1368+1192del ENSP00000340816.5:n.1368+1191_1368+1192del
ENST00000511206.5:c.1368+1191_1368+1192del ENSP00000426745.1:n.1368+1191_1368+1192del
NM_000859.2:c.1368+1191_1368+1192del NP_000850.1:n.1368+1191_1368+1192del
NM_001130996.1:c.1368+1191_1368+1192del NP_001124468.1:n.1368+1191_1368+1192del
XM_011543357.1:c.1428+1191_1428+1192del XP_011541659.1:n.1428+1191_1428+1192del
XM_011543358.1:c.1368+1191_1368+1192del XP_011541660.1:n.1368+1191_1368+1192del
XM_011543359.1:c.1428+1191_1428+1192del XP_011541661.1:n.1428+1191_1428+1192del
NM_001364187.1:c.1368+1191_1368+1192del NP_001351116.1:n.1368+1191_1368+1192del
NM_000859.3:c.1368+1191_1368+1192del MANE Select NP_000850.1:n.1368+1191_1368+1192del
NM_001130996.2:c.1368+1191_1368+1192del NP_001124468.1:n.1368+1191_1368+1192del