Canonical Allele Identifier: CA2573150656

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 1435021
• ClinVar RCV Id: RCV001984778
• dbSNP Id: rs2140777796

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34260962_34260963delinsCT , CM000677.2:g.34260962_34260963delinsCT	GRCh38
NC_000015.9:g.34553163_34553164delinsCT , CM000677.1:g.34553163_34553164delinsCT	GRCh37
NC_000015.8:g.32340455_32340456delinsCT	NCBI36
NG_007951.1:g.82102_82103delinsAG , LRG_270:g.82102_82103delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.374_375delinsAG MANE Select	ENSP00000346112.3:p.Gly125Glu
ENST00000675289.1:n.1156_1157delinsAG
ENST00000676379.1:c.374_375delinsAG	ENSP00000502539.1:p.Gly125Glu
ENST00000290209.9:c.221_222delinsAG	ENSP00000290209.5:p.Gly74Glu
ENST00000354181.7:c.374_375delinsAG	ENSP00000346112.3:p.Gly125Glu
ENST00000397702.6:c.197_198delinsAG	ENSP00000380814.2:p.Gly66Glu
ENST00000397707.6:c.329_330delinsAG	ENSP00000380819.2:p.Gly110Glu
ENST00000458406.6:c.197_198delinsAG	ENSP00000387725.2:p.Gly66Glu
ENST00000558589.5:c.347_348delinsAG	ENSP00000452776.1:p.Gly116Glu
ENST00000558667.5:c.374_375delinsAG	ENSP00000453473.1:p.Gly125Glu
ENST00000559236.5:c.374_375delinsAG	ENSP00000452828.1:p.Gly125Glu
ENST00000559523.5:c.197_198delinsAG	ENSP00000452904.1:p.Gly66Glu
ENST00000559664.5:c.374_375delinsAG	ENSP00000453702.1:p.Gly125Glu
ENST00000560164.5:c.-44_-43delinsAG	ENSP00000452705.1:n.-44_-43delinsAG
ENST00000560332.1:c.-44_-43delinsAG	ENSP00000454037.1:n.-44_-43delinsAG
ENST00000560611.5:c.374_375delinsAG	ENSP00000454168.1:p.Gly125Glu
ENST00000561080.5:c.374_375delinsAG	ENSP00000454069.1:p.Gly125Glu
ENST00000561120.5:c.347_348delinsAG	ENSP00000452771.1:p.Gly116Glu
NM_001042494.1:c.197_198delinsAG	NP_001035959.1:p.Gly66Glu
NM_001042495.1:c.197_198delinsAG	NP_001035960.1:p.Gly66Glu
NM_001042496.1:c.347_348delinsAG	NP_001035961.1:p.Gly116Glu
NM_001042497.1:c.329_330delinsAG	NP_001035962.1:p.Gly110Glu
NM_005135.2:c.221_222delinsAG , LRG_270t1:c.221_222delinsAG	NP_005126.1:p.Gly74Glu
NM_133647.1:c.374_375delinsAG , LRG_270t2:c.374_375delinsAG	NP_598408.1:p.Gly125Glu
XM_006720793.2:c.374_375delinsAG	XP_006720856.1:p.Gly125Glu
XM_011522267.1:c.374_375delinsAG	XP_011520569.1:p.Gly125Glu
XM_011522268.1:c.374_375delinsAG	XP_011520570.1:p.Gly125Glu
XM_011522269.1:c.374_375delinsAG	XP_011520571.1:p.Gly125Glu
XR_429476.2:n.380_381delinsAG
XR_931960.1:n.380_381delinsAG
XR_931961.1:n.380_381delinsAG
NM_001365088.1:c.374_375delinsAG MANE Select	NP_001352017.1:p.Gly125Glu
XM_006720793.4:c.374_375delinsAG	XP_006720856.1:p.Gly125Glu
XM_011522269.3:c.374_375delinsAG	XP_011520571.1:p.Gly125Glu
XR_931960.3:n.1624_1625delinsAG
NM_001042494.2:c.197_198delinsAG	NP_001035959.1:p.Gly66Glu
NM_001042495.2:c.197_198delinsAG	NP_001035960.1:p.Gly66Glu
NM_001042496.2:c.347_348delinsAG	NP_001035961.1:p.Gly116Glu
NM_001042497.2:c.329_330delinsAG	NP_001035962.1:p.Gly110Glu
NM_133647.2:c.374_375delinsAG	NP_598408.1:p.Gly125Glu