Canonical Allele Identifier: CA658798292

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 523557
• ClinVar RCV Id: RCV000626992 ; RCV001860481
• dbSNP Id: rs1555380716
• MyVariant Identifiers: chr15:g.34547587dup (hg19) ; chr15:g.34255386dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34255390dup , CM000677.2:g.34255390dup	GRCh38
NC_000015.9:g.34547591dup , CM000677.1:g.34547591dup	GRCh37
NC_000015.8:g.32334883dup	NCBI36
NG_007951.1:g.87679dup , LRG_270:g.87679dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.752dup MANE Select	ENSP00000346112.3:p.Ser252LeufsTer?
ENST00000675289.1:n.1534dup
ENST00000676379.1:c.752dup	ENSP00000502539.1:p.Ser252LeufsTer?
ENST00000290209.9:c.599dup	ENSP00000290209.5:p.Ser201LeufsTer?
ENST00000354181.7:c.752dup	ENSP00000346112.3:p.Ser252LeufsTer?
ENST00000397702.6:c.575dup	ENSP00000380814.2:p.Ser193LeufsTer?
ENST00000397707.6:c.707dup	ENSP00000380819.2:p.Ser237LeufsTer?
ENST00000458406.6:c.575dup	ENSP00000387725.2:p.Ser193LeufsTer?
ENST00000558589.5:c.725dup	ENSP00000452776.1:p.Ser243LeufsTer?
ENST00000558667.5:c.752dup	ENSP00000453473.1:p.Ser252LeufsTer?
ENST00000559523.5:c.575dup	ENSP00000452904.1:p.Ser193LeufsTer?
ENST00000559664.5:c.752dup	ENSP00000453702.1:p.Ser252LeufsTer?
ENST00000560164.5:c.188dup	ENSP00000452705.1:p.Ser64LeufsTer?
ENST00000560611.5:c.752dup	ENSP00000454168.1:p.Ser252LeufsTer?
ENST00000561080.5:c.752dup	ENSP00000454069.1:p.Ser252LeufsTer?
NM_001042494.1:c.575dup	NP_001035959.1:p.Ser193LeufsTer?
NM_001042495.1:c.575dup	NP_001035960.1:p.Ser193LeufsTer?
NM_001042496.1:c.725dup	NP_001035961.1:p.Ser243LeufsTer?
NM_001042497.1:c.707dup	NP_001035962.1:p.Ser237LeufsTer?
NM_005135.2:c.599dup , LRG_270t1:c.599dup	NP_005126.1:p.Ser201LeufsTer?
NM_133647.1:c.752dup , LRG_270t2:c.752dup	NP_598408.1:p.Ser252LeufsTer?
XM_006720793.2:c.605dup	XP_006720856.1:p.Ser203LeufsTer?
XM_011522267.1:c.752dup	XP_011520569.1:p.Ser252LeufsTer?
XM_011522268.1:c.752dup	XP_011520570.1:p.Ser252LeufsTer?
XM_011522269.1:c.752dup	XP_011520571.1:p.Ser252LeufsTer?
XR_429476.2:n.758dup
XR_931960.1:n.758dup
XR_931961.1:n.758dup
NM_001365088.1:c.752dup MANE Select	NP_001352017.1:p.Ser252LeufsTer?
XM_006720793.4:c.605dup	XP_006720856.1:p.Ser203LeufsTer?
XM_011522269.3:c.752dup	XP_011520571.1:p.Ser252LeufsTer?
XR_931960.3:n.2002dup
NM_001042494.2:c.575dup	NP_001035959.1:p.Ser193LeufsTer?
NM_001042495.2:c.575dup	NP_001035960.1:p.Ser193LeufsTer?
NM_001042496.2:c.725dup	NP_001035961.1:p.Ser243LeufsTer?
NM_001042497.2:c.707dup	NP_001035962.1:p.Ser237LeufsTer?
NM_133647.2:c.752dup	NP_598408.1:p.Ser252LeufsTer?