Canonical Allele Identifier: CA1556068612
Gene: HMGCR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75352507_75352533delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC , CM000667.2:g.75352507_75352533delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC GRCh38
NC_000005.9:g.74648332_74648358delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC , CM000667.1:g.74648332_74648358delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC GRCh37
NC_000005.8:g.74684088_74684114delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC NCBI36
NG_011449.1:g.20340_20366delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000287936.9:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC MANE Select ENSP00000287936.4:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
ENST00000679456.1:n.2205+905_2205+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC
ENST00000680160.1:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000505315.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
ENST00000680940.1:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000505561.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
ENST00000681271.1:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000505805.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
ENST00000681410.1:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000506232.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
ENST00000681567.1:c.*1917+905_*1917+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000506708.1:n.*1917+905_*1917+931delinsTCAAGTGGTCTGCCTG...
ENST00000287936.8:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000287936.4:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
ENST00000343975.9:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000340816.5:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
ENST00000511206.5:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC ENSP00000426745.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCC...
NM_000859.2:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC NP_000850.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCC...
NM_001130996.1:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC NP_001124468.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTG...
XM_011543357.1:c.1428+905_1428+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC XP_011541659.1:n.1428+905_1428+931delinsTCAAGTGGTCTGCCTGCCTTG...
XM_011543358.1:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC XP_011541660.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTG...
XM_011543359.1:c.1428+905_1428+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC XP_011541661.1:n.1428+905_1428+931delinsTCAAGTGGTCTGCCTGCCTTG...
NM_001364187.1:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC NP_001351116.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTG...
NM_000859.3:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC MANE Select NP_000850.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCC...
NM_001130996.2:c.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTGGCCTCC NP_001124468.1:n.1368+905_1368+931delinsTCAAGTGGTCTGCCTGCCTTG...