Canonical Allele Identifier: CA617179481

Gene: SLC12A6

Linked Data

• dbSNP Id: rs1456727841
• gnomAD v2: 15-34549665-C-CT
• gnomAD v3: 15-34257464-C-CT
• gnomAD v4: 15-34257464-C-CT
• MyVariant Identifiers: chr15:g.34549665_34549666insT (hg19) ; chr15:g.34257464_34257465insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257465dup , CM000677.2:g.34257465dup	GRCh38
NC_000015.9:g.34549666dup , CM000677.1:g.34549666dup	GRCh37
NC_000015.8:g.32336958dup	NCBI36
NG_007951.1:g.85600dup , LRG_270:g.85600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.690+177dup MANE Select	ENSP00000346112.3:n.690+177dup
ENST00000675289.1:n.1472+177dup
ENST00000676379.1:c.690+177dup	ENSP00000502539.1:n.690+177dup
ENST00000290209.9:c.537+177dup	ENSP00000290209.5:n.537+177dup
ENST00000354181.7:c.690+177dup	ENSP00000346112.3:n.690+177dup
ENST00000397702.6:c.513+177dup	ENSP00000380814.2:n.513+177dup
ENST00000397707.6:c.645+177dup	ENSP00000380819.2:n.645+177dup
ENST00000458406.6:c.513+177dup	ENSP00000387725.2:n.513+177dup
ENST00000558589.5:c.663+177dup	ENSP00000452776.1:n.663+177dup
ENST00000558667.5:c.690+177dup	ENSP00000453473.1:n.690+177dup
ENST00000559523.5:c.513+177dup	ENSP00000452904.1:n.513+177dup
ENST00000559664.5:c.690+177dup	ENSP00000453702.1:n.690+177dup
ENST00000560164.5:c.127-1182dup	ENSP00000452705.1:n.127-1182dup
ENST00000560332.1:c.273+177dup	ENSP00000454037.1:n.273+177dup
ENST00000560611.5:c.690+177dup	ENSP00000454168.1:n.690+177dup
ENST00000561080.5:c.690+177dup	ENSP00000454069.1:n.690+177dup
NM_001042494.1:c.513+177dup	NP_001035959.1:n.513+177dup
NM_001042495.1:c.513+177dup	NP_001035960.1:n.513+177dup
NM_001042496.1:c.663+177dup	NP_001035961.1:n.663+177dup
NM_001042497.1:c.645+177dup	NP_001035962.1:n.645+177dup
NM_005135.2:c.537+177dup , LRG_270t1:c.537+177dup	NP_005126.1:n.537+177dup
NM_133647.1:c.690+177dup , LRG_270t2:c.690+177dup	NP_598408.1:n.690+177dup
XM_006720793.2:c.544-1182dup	XP_006720856.1:n.544-1182dup
XM_011522267.1:c.690+177dup	XP_011520569.1:n.690+177dup
XM_011522268.1:c.690+177dup	XP_011520570.1:n.690+177dup
XM_011522269.1:c.690+177dup	XP_011520571.1:n.690+177dup
XR_429476.2:n.696+177dup
XR_931960.1:n.696+177dup
XR_931961.1:n.696+177dup
NM_001365088.1:c.690+177dup MANE Select	NP_001352017.1:n.690+177dup
XM_006720793.4:c.544-1182dup	XP_006720856.1:n.544-1182dup
XM_011522269.3:c.690+177dup	XP_011520571.1:n.690+177dup
XR_931960.3:n.1940+177dup
NM_001042494.2:c.513+177dup	NP_001035959.1:n.513+177dup
NM_001042495.2:c.513+177dup	NP_001035960.1:n.513+177dup
NM_001042496.2:c.663+177dup	NP_001035961.1:n.663+177dup
NM_001042497.2:c.645+177dup	NP_001035962.1:n.645+177dup
NM_133647.2:c.690+177dup	NP_598408.1:n.690+177dup