Canonical Allele Identifier: CA2575985256
Gene: ABCC12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.48146222del , CM000678.2:g.48146222del GRCh38
NC_000016.9:g.48180133del , CM000678.1:g.48180133del GRCh37
NC_000016.8:g.46737634del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000311303.8:c.119+86del MANE Select ENSP00000311030.4:n.119+86del
ENST00000528693.6:c.119+86del ENSP00000510388.1:n.119+86del
ENST00000532494.6:n.465+86del
ENST00000311303.7:c.119+86del ENSP00000311030.3:n.119+86del
ENST00000497206.6:c.119+86del ENSP00000431232.1:n.119+86del
ENST00000527640.1:c.119+86del ENSP00000436647.1:n.119+86del
ENST00000528693.5:n.322+86del
ENST00000529084.5:c.119+86del ENSP00000434510.1:n.119+86del
ENST00000529504.5:c.119+86del ENSP00000433333.1:n.119+86del
ENST00000532494.5:c.119+86del ENSP00000437047.1:n.119+86del
ENST00000533639.5:c.119+86del ENSP00000435715.1:n.119+86del
ENST00000534418.5:c.119+86del ENSP00000431354.1:n.119+86del
NM_033226.2:c.119+86del NP_150229.2:n.119+86del
NM_001392028.1:c.119+86del NP_001378957.1:n.119+86del
NM_001393797.1:c.119+86del MANE Select NP_001380726.1:n.119+86del
NM_033226.3:c.119+86del NP_150229.2:n.119+86del
NR_171628.1:n.591+86del
NR_171629.1:n.169+86del
NR_171630.1:n.169+86del
NR_171631.1:n.169+86del
NR_171632.1:n.169+86del
NR_171633.1:n.169+86del