Canonical Allele Identifier: CA2999974258
Community Standard Title: NM_001126108.2(SLC12A3):c.2925-18dup
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56913246dup , CM000678.2:g.56913246dup GRCh38
NC_000016.9:g.56947158dup , CM000678.1:g.56947158dup GRCh37
NC_000016.8:g.55504659dup NCBI36
NG_009386.1:g.53040dup
NG_009386.2:g.53040dup

Transcript Alleles

HGVS Amino-acid Change
NM_001126108.2:c.2925-18dup MANE Select NP_001119580.2:n.2925-18dup
ENST00000563236.6:c.2925-18dup MANE Select ENSP00000456149.2:n.2925-18dup
NM_000339.2:c.2952-18dup NP_000330.2:n.2952-18dup
NM_000339.3:c.2952-18dup NP_000330.3:n.2952-18dup
NM_001126107.1:c.2949-18dup NP_001119579.1:n.2949-18dup
NM_001126107.2:c.2949-18dup NP_001119579.2:n.2949-18dup
NM_001126108.1:c.2925-18dup NP_001119580.1:n.2925-18dup
ENST00000262502.5:c.2922-18dup ENSP00000262502.5:n.2922-18dup
ENST00000438926.6:c.2952-18dup ENSP00000402152.2:n.2952-18dup
ENST00000563236.5:c.2925-18dup ENSP00000456149.1:n.2925-18dup
ENST00000563352.1:n.73-18dup
ENST00000566786.5:c.2949-18dup ENSP00000457552.1:n.2949-18dup
XM_005256119.1:c.2922-18dup XP_005256176.1:n.2922-18dup
XM_005256119.2:c.2922-18dup XP_005256176.1:n.2922-18dup