Canonical Allele Identifier: CA2224364937

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902672_56902674delinsACC , CM000678.2:g.56902672_56902674delinsACC	GRCh38
NC_000016.9:g.56936584_56936586delinsACC , CM000678.1:g.56936584_56936586delinsACC	GRCh37
NC_000016.8:g.55494085_55494087delinsACC	NCBI36
NG_009386.1:g.42466_42468delinsACC
NG_009386.2:g.42466_42468delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+164_2856+166delinsACC MANE Select	ENSP00000456149.2:n.2856+164_2856+166delinsACC
ENST00000262502.5:c.2853+164_2853+166delinsACC	ENSP00000262502.5:n.2853+164_2853+166delinsACC
ENST00000438926.6:c.2883+164_2883+166delinsACC	ENSP00000402152.2:n.2883+164_2883+166delinsACC
ENST00000563236.5:c.2856+164_2856+166delinsACC	ENSP00000456149.1:n.2856+164_2856+166delinsACC
ENST00000566786.5:c.2880+164_2880+166delinsACC	ENSP00000457552.1:n.2880+164_2880+166delinsACC
ENST00000569002.1:n.287+164_287+166delinsACC
NM_000339.2:c.2883+164_2883+166delinsACC	NP_000330.2:n.2883+164_2883+166delinsACC
NM_001126107.1:c.2880+164_2880+166delinsACC	NP_001119579.1:n.2880+164_2880+166delinsACC
NM_001126108.1:c.2856+164_2856+166delinsACC	NP_001119580.1:n.2856+164_2856+166delinsACC
XM_005256119.1:c.2853+164_2853+166delinsACC	XP_005256176.1:n.2853+164_2853+166delinsACC
XM_005256119.2:c.2853+164_2853+166delinsACC	XP_005256176.1:n.2853+164_2853+166delinsACC
NM_000339.3:c.2883+164_2883+166delinsACC	NP_000330.3:n.2883+164_2883+166delinsACC
NM_001126107.2:c.2880+164_2880+166delinsACC	NP_001119579.2:n.2880+164_2880+166delinsACC
NM_001126108.2:c.2856+164_2856+166delinsACC MANE Select	NP_001119580.2:n.2856+164_2856+166delinsACC