Canonical Allele Identifier: CA2580089320

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 2178630
• ClinVar RCV Id: RCV002591474

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257697_34257698delinsGA , CM000677.2:g.34257697_34257698delinsGA	GRCh38
NC_000015.9:g.34549898_34549899delinsGA , CM000677.1:g.34549898_34549899delinsGA	GRCh37
NC_000015.8:g.32337190_32337191delinsGA	NCBI36
NG_007951.1:g.85367_85368delinsTC , LRG_270:g.85367_85368delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.634_635delinsTC MANE Select	ENSP00000346112.3:p.Val212Ser
ENST00000675289.1:n.1416_1417delinsTC
ENST00000676379.1:c.634_635delinsTC	ENSP00000502539.1:p.Val212Ser
ENST00000290209.9:c.481_482delinsTC	ENSP00000290209.5:p.Val161Ser
ENST00000354181.7:c.634_635delinsTC	ENSP00000346112.3:p.Val212Ser
ENST00000397702.6:c.457_458delinsTC	ENSP00000380814.2:p.Val153Ser
ENST00000397707.6:c.589_590delinsTC	ENSP00000380819.2:p.Val197Ser
ENST00000458406.6:c.457_458delinsTC	ENSP00000387725.2:p.Val153Ser
ENST00000558589.5:c.607_608delinsTC	ENSP00000452776.1:p.Val203Ser
ENST00000558667.5:c.634_635delinsTC	ENSP00000453473.1:p.Val212Ser
ENST00000559523.5:c.457_458delinsTC	ENSP00000452904.1:p.Val153Ser
ENST00000559664.5:c.634_635delinsTC	ENSP00000453702.1:p.Val212Ser
ENST00000560164.5:c.126+1115_126+1116delinsTC	ENSP00000452705.1:n.126+1115_126+1116delinsTC
ENST00000560332.1:c.217_218delinsTC	ENSP00000454037.1:p.Val73Ser
ENST00000560611.5:c.634_635delinsTC	ENSP00000454168.1:p.Val212Ser
ENST00000561080.5:c.634_635delinsTC	ENSP00000454069.1:p.Val212Ser
NM_001042494.1:c.457_458delinsTC	NP_001035959.1:p.Val153Ser
NM_001042495.1:c.457_458delinsTC	NP_001035960.1:p.Val153Ser
NM_001042496.1:c.607_608delinsTC	NP_001035961.1:p.Val203Ser
NM_001042497.1:c.589_590delinsTC	NP_001035962.1:p.Val197Ser
NM_005135.2:c.481_482delinsTC , LRG_270t1:c.481_482delinsTC	NP_005126.1:p.Val161Ser
NM_133647.1:c.634_635delinsTC , LRG_270t2:c.634_635delinsTC	NP_598408.1:p.Val212Ser
XM_006720793.2:c.543+1115_543+1116delinsTC	XP_006720856.1:n.543+1115_543+1116delinsTC
XM_011522267.1:c.634_635delinsTC	XP_011520569.1:p.Val212Ser
XM_011522268.1:c.634_635delinsTC	XP_011520570.1:p.Val212Ser
XM_011522269.1:c.634_635delinsTC	XP_011520571.1:p.Val212Ser
XR_429476.2:n.640_641delinsTC
XR_931960.1:n.640_641delinsTC
XR_931961.1:n.640_641delinsTC
NM_001365088.1:c.634_635delinsTC MANE Select	NP_001352017.1:p.Val212Ser
XM_006720793.4:c.543+1115_543+1116delinsTC	XP_006720856.1:n.543+1115_543+1116delinsTC
XM_011522269.3:c.634_635delinsTC	XP_011520571.1:p.Val212Ser
XR_931960.3:n.1884_1885delinsTC
NM_001042494.2:c.457_458delinsTC	NP_001035959.1:p.Val153Ser
NM_001042495.2:c.457_458delinsTC	NP_001035960.1:p.Val153Ser
NM_001042496.2:c.607_608delinsTC	NP_001035961.1:p.Val203Ser
NM_001042497.2:c.589_590delinsTC	NP_001035962.1:p.Val197Ser
NM_133647.2:c.634_635delinsTC	NP_598408.1:p.Val212Ser