Canonical Allele Identifier: CA721955930
Community Standard Title: NM_001126108.2(SLC12A3):c.2925-13del
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56913251del , CM000678.2:g.56913251del GRCh38
NC_000016.9:g.56947163del , CM000678.1:g.56947163del GRCh37
NC_000016.8:g.55504664del NCBI36
NG_009386.1:g.53045del
NG_009386.2:g.53045del

Transcript Alleles

HGVS Amino-acid Change
NM_001126108.2:c.2925-13del MANE Select NP_001119580.2:n.2925-13del
ENST00000563236.6:c.2925-13del MANE Select ENSP00000456149.2:n.2925-13del
NM_000339.2:c.2952-13del NP_000330.2:n.2952-13del
NM_000339.3:c.2952-13del NP_000330.3:n.2952-13del
NM_001126107.1:c.2949-13del NP_001119579.1:n.2949-13del
NM_001126107.2:c.2949-13del NP_001119579.2:n.2949-13del
NM_001126108.1:c.2925-13del NP_001119580.1:n.2925-13del
ENST00000262502.5:c.2922-13del ENSP00000262502.5:n.2922-13del
ENST00000438926.6:c.2952-13del ENSP00000402152.2:n.2952-13del
ENST00000563236.5:c.2925-13del ENSP00000456149.1:n.2925-13del
ENST00000563352.1:n.73-13del
ENST00000566786.5:c.2949-13del ENSP00000457552.1:n.2949-13del
XM_005256119.1:c.2922-13del XP_005256176.1:n.2922-13del
XM_005256119.2:c.2922-13del XP_005256176.1:n.2922-13del