Canonical Allele Identifier: CA2224364981

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902776_56902780delinsTCCTC , CM000678.2:g.56902776_56902780delinsTCCTC	GRCh38
NC_000016.9:g.56936688_56936692delinsTCCTC , CM000678.1:g.56936688_56936692delinsTCCTC	GRCh37
NC_000016.8:g.55494189_55494193delinsTCCTC	NCBI36
NG_009386.1:g.42570_42574delinsTCCTC
NG_009386.2:g.42570_42574delinsTCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+268_2856+272delinsTCCTC MANE Select	ENSP00000456149.2:n.2856+268_2856+272delinsTCCTC
ENST00000262502.5:c.2853+268_2853+272delinsTCCTC	ENSP00000262502.5:n.2853+268_2853+272delinsTCCTC
ENST00000438926.6:c.2883+268_2883+272delinsTCCTC	ENSP00000402152.2:n.2883+268_2883+272delinsTCCTC
ENST00000563236.5:c.2856+268_2856+272delinsTCCTC	ENSP00000456149.1:n.2856+268_2856+272delinsTCCTC
ENST00000566786.5:c.2880+268_2880+272delinsTCCTC	ENSP00000457552.1:n.2880+268_2880+272delinsTCCTC
ENST00000569002.1:n.287+268_287+272delinsTCCTC
NM_000339.2:c.2883+268_2883+272delinsTCCTC	NP_000330.2:n.2883+268_2883+272delinsTCCTC
NM_001126107.1:c.2880+268_2880+272delinsTCCTC	NP_001119579.1:n.2880+268_2880+272delinsTCCTC
NM_001126108.1:c.2856+268_2856+272delinsTCCTC	NP_001119580.1:n.2856+268_2856+272delinsTCCTC
XM_005256119.1:c.2853+268_2853+272delinsTCCTC	XP_005256176.1:n.2853+268_2853+272delinsTCCTC
XM_005256119.2:c.2853+268_2853+272delinsTCCTC	XP_005256176.1:n.2853+268_2853+272delinsTCCTC
NM_000339.3:c.2883+268_2883+272delinsTCCTC	NP_000330.3:n.2883+268_2883+272delinsTCCTC
NM_001126107.2:c.2880+268_2880+272delinsTCCTC	NP_001119579.2:n.2880+268_2880+272delinsTCCTC
NM_001126108.2:c.2856+268_2856+272delinsTCCTC MANE Select	NP_001119580.2:n.2856+268_2856+272delinsTCCTC