Canonical Allele Identifier: CA2220670332
Gene: ABCC12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.48146157_48146161delinsGATAA , CM000678.2:g.48146157_48146161delinsGATAA GRCh38
NC_000016.9:g.48180068_48180072delinsGATAA , CM000678.1:g.48180068_48180072delinsGATAA GRCh37
NC_000016.8:g.46737569_46737573delinsGATAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000311303.8:c.119+145_119+149delinsTTATC MANE Select ENSP00000311030.4:n.119+145_119+149delins...
ENST00000528693.6:c.119+145_119+149delinsTTATC ENSP00000510388.1:n.119+145_119+149delins...
ENST00000532494.6:n.465+145_465+149delinsTTATC
ENST00000311303.7:c.119+145_119+149delinsTTATC ENSP00000311030.3:n.119+145_119+149delins...
ENST00000497206.6:c.119+145_119+149delinsTTATC ENSP00000431232.1:n.119+145_119+149delins...
ENST00000527640.1:c.119+145_119+149delinsTTATC ENSP00000436647.1:n.119+145_119+149delins...
ENST00000528693.5:n.322+145_322+149delinsTTATC
ENST00000529084.5:c.119+145_119+149delinsTTATC ENSP00000434510.1:n.119+145_119+149delins...
ENST00000529504.5:c.119+145_119+149delinsTTATC ENSP00000433333.1:n.119+145_119+149delins...
ENST00000532494.5:c.119+145_119+149delinsTTATC ENSP00000437047.1:n.119+145_119+149delins...
ENST00000533639.5:c.119+145_119+149delinsTTATC ENSP00000435715.1:n.119+145_119+149delins...
ENST00000534418.5:c.119+145_119+149delinsTTATC ENSP00000431354.1:n.119+145_119+149delins...
NM_033226.2:c.119+145_119+149delinsTTATC NP_150229.2:n.119+145_119+149delinsTTATC
NM_001392028.1:c.119+145_119+149delinsTTATC NP_001378957.1:n.119+145_119+149delinsTTA...
NM_001393797.1:c.119+145_119+149delinsTTATC MANE Select NP_001380726.1:n.119+145_119+149delinsTTA...
NM_033226.3:c.119+145_119+149delinsTTATC NP_150229.2:n.119+145_119+149delinsTTATC
NR_171628.1:n.591+145_591+149delinsTTATC
NR_171629.1:n.169+145_169+149delinsTTATC
NR_171630.1:n.169+145_169+149delinsTTATC
NR_171631.1:n.169+145_169+149delinsTTATC
NR_171632.1:n.169+145_169+149delinsTTATC
NR_171633.1:n.169+145_169+149delinsTTATC