Canonical Allele Identifier: CA2590942827

Gene: SLC12A6

Linked Data

• dbSNP Id: rs2140744983
• gnomAD v3: 15-34257550-ATTC-A
• gnomAD v4: 15-34257550-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257553_34257555del , CM000677.2:g.34257553_34257555del	GRCh38
NC_000015.9:g.34549754_34549756del , CM000677.1:g.34549754_34549756del	GRCh37
NC_000015.8:g.32337046_32337048del	NCBI36
NG_007951.1:g.85512_85514del , LRG_270:g.85512_85514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.690+89_690+91del MANE Select	ENSP00000346112.3:n.690+89_690+91del
ENST00000675289.1:n.1472+89_1472+91del
ENST00000676379.1:c.690+89_690+91del	ENSP00000502539.1:n.690+89_690+91del
ENST00000290209.9:c.537+89_537+91del	ENSP00000290209.5:n.537+89_537+91del
ENST00000354181.7:c.690+89_690+91del	ENSP00000346112.3:n.690+89_690+91del
ENST00000397702.6:c.513+89_513+91del	ENSP00000380814.2:n.513+89_513+91del
ENST00000397707.6:c.645+89_645+91del	ENSP00000380819.2:n.645+89_645+91del
ENST00000458406.6:c.513+89_513+91del	ENSP00000387725.2:n.513+89_513+91del
ENST00000558589.5:c.663+89_663+91del	ENSP00000452776.1:n.663+89_663+91del
ENST00000558667.5:c.690+89_690+91del	ENSP00000453473.1:n.690+89_690+91del
ENST00000559523.5:c.513+89_513+91del	ENSP00000452904.1:n.513+89_513+91del
ENST00000559664.5:c.690+89_690+91del	ENSP00000453702.1:n.690+89_690+91del
ENST00000560164.5:c.126+1260_126+1262del	ENSP00000452705.1:n.126+1260_126+1262del
ENST00000560332.1:c.273+89_273+91del	ENSP00000454037.1:n.273+89_273+91del
ENST00000560611.5:c.690+89_690+91del	ENSP00000454168.1:n.690+89_690+91del
ENST00000561080.5:c.690+89_690+91del	ENSP00000454069.1:n.690+89_690+91del
NM_001042494.1:c.513+89_513+91del	NP_001035959.1:n.513+89_513+91del
NM_001042495.1:c.513+89_513+91del	NP_001035960.1:n.513+89_513+91del
NM_001042496.1:c.663+89_663+91del	NP_001035961.1:n.663+89_663+91del
NM_001042497.1:c.645+89_645+91del	NP_001035962.1:n.645+89_645+91del
NM_005135.2:c.537+89_537+91del , LRG_270t1:c.537+89_537+91del	NP_005126.1:n.537+89_537+91del
NM_133647.1:c.690+89_690+91del , LRG_270t2:c.690+89_690+91del	NP_598408.1:n.690+89_690+91del
XM_006720793.2:c.543+1260_543+1262del	XP_006720856.1:n.543+1260_543+1262del
XM_011522267.1:c.690+89_690+91del	XP_011520569.1:n.690+89_690+91del
XM_011522268.1:c.690+89_690+91del	XP_011520570.1:n.690+89_690+91del
XM_011522269.1:c.690+89_690+91del	XP_011520571.1:n.690+89_690+91del
XR_429476.2:n.696+89_696+91del
XR_931960.1:n.696+89_696+91del
XR_931961.1:n.696+89_696+91del
NM_001365088.1:c.690+89_690+91del MANE Select	NP_001352017.1:n.690+89_690+91del
XM_006720793.4:c.543+1260_543+1262del	XP_006720856.1:n.543+1260_543+1262del
XM_011522269.3:c.690+89_690+91del	XP_011520571.1:n.690+89_690+91del
XR_931960.3:n.1940+89_1940+91del
NM_001042494.2:c.513+89_513+91del	NP_001035959.1:n.513+89_513+91del
NM_001042495.2:c.513+89_513+91del	NP_001035960.1:n.513+89_513+91del
NM_001042496.2:c.663+89_663+91del	NP_001035961.1:n.663+89_663+91del
NM_001042497.2:c.645+89_645+91del	NP_001035962.1:n.645+89_645+91del
NM_133647.2:c.690+89_690+91del	NP_598408.1:n.690+89_690+91del