Canonical Allele Identifier: CA2562625164
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34007580_34007581insATTCCTCCTTTTTTTTCTAAGAAAC , CM000667.2:g.34007580_34007581insATTCCTCCTTTTTTTTCTAAGAAAC GRCh38
NC_000005.9:g.34007685_34007686insATTCCTCCTTTTTTTTCTAAGAAAC , CM000667.1:g.34007685_34007686insATTCCTCCTTTTTTTTCTAAGAAAC GRCh37
NC_000005.8:g.34043442_34043443insATTCCTCCTTTTTTTTCTAAGAAAC NCBI36
NG_016211.1:g.5535_5536insGTTTCTTAGAAAAAAAAGGAGGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) MANE Select ENSP00000334424.6:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000335606.10:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000334424.6:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000382068.3:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000477108.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000382072.6:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000371504.2:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000382079.3:c.690-1682_690-1681insGTTTCTTAGAAAAAAAAGGAGGAAT (C1QTNF3-AMACR) ENSP00000371511.3:n.690-1682_690-1681insGTTTCTTAGAAAAAAAAGGAG...
ENST00000382085.7:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000371517.3:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000426255.6:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000476965.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000502637.5:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000424351.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000506639.5:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000427227.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000512079.5:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) ENSP00000477411.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGA...
ENST00000514195.1:n.259+192_259+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR)
NM_001167595.1:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) NP_001161067.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT
NM_014324.5:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) NP_055139.4:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT
NM_203382.2:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) NP_976316.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT
NR_037951.1:n.765-1682_765-1681insGTTTCTTAGAAAAAAAAGGAGGAAT (C1QTNF3-AMACR)
NM_014324.6:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) MANE Select NP_055139.4:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT
NM_001167595.2:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) NP_001161067.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT
NM_203382.3:c.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT (AMACR) NP_976316.1:n.247+192_247+193insGTTTCTTAGAAAAAAAAGGAGGAAT