Canonical Allele Identifier: CA7464165

Gene: SLC12A6

Linked Data

• dbSNP Id: rs747051525
• ExAC: 15:34536179 GGTA / G
• gnomAD v2: 15-34536179-GGTA-G
• MyVariant Identifiers: chr15:g.34536180_34536182del (hg19) ; chr15:g.34243979_34243981del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34243983_34243985del , CM000677.2:g.34243983_34243985del	GRCh38
NC_000015.9:g.34536184_34536186del , CM000677.1:g.34536184_34536186del	GRCh37
NC_000015.8:g.32323476_32323478del	NCBI36
NG_007951.1:g.99084_99086del , LRG_270:g.99084_99086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.2035_2037del MANE Select	ENSP00000346112.3:p.Tyr679del
ENST00000675289.1:n.2817_2819del
ENST00000676379.1:c.2035_2037del	ENSP00000502539.1:p.Tyr679del
ENST00000290209.9:c.1882_1884del	ENSP00000290209.5:p.Tyr628del
ENST00000354181.7:c.2035_2037del	ENSP00000346112.3:p.Tyr679del
ENST00000397702.6:c.1858_1860del	ENSP00000380814.2:p.Tyr620del
ENST00000397707.6:c.1990_1992del	ENSP00000380819.2:p.Tyr664del
ENST00000458406.6:c.1858_1860del	ENSP00000387725.2:p.Tyr620del
ENST00000558589.5:c.2008_2010del	ENSP00000452776.1:p.Tyr670del
ENST00000558667.5:c.2035_2037del	ENSP00000453473.1:p.Tyr679del
ENST00000559523.5:c.1858_1860del	ENSP00000452904.1:p.Tyr620del
ENST00000559664.5:c.2035_2037del	ENSP00000453702.1:p.Tyr679del
ENST00000560023.1:n.148_150del
ENST00000560164.5:c.1471_1473del	ENSP00000452705.1:p.Tyr491del
ENST00000560611.5:c.2035_2037del	ENSP00000454168.1:p.Tyr679del
ENST00000561080.5:c.2035_2037del	ENSP00000454069.1:p.Tyr679del
NM_001042494.1:c.1858_1860del	NP_001035959.1:p.Tyr620del
NM_001042495.1:c.1858_1860del	NP_001035960.1:p.Tyr620del
NM_001042496.1:c.2008_2010del	NP_001035961.1:p.Tyr670del
NM_001042497.1:c.1990_1992del	NP_001035962.1:p.Tyr664del
NM_005135.2:c.1882_1884del , LRG_270t1:c.1882_1884del	NP_005126.1:p.Tyr628del
NM_133647.1:c.2035_2037del , LRG_270t2:c.2035_2037del	NP_598408.1:p.Tyr679del
XM_006720793.2:c.1888_1890del	XP_006720856.1:p.Tyr630del
XM_011522267.1:c.2035_2037del	XP_011520569.1:p.Tyr679del
XM_011522268.1:c.2035_2037del	XP_011520570.1:p.Tyr679del
XM_011522269.1:c.2035_2037del	XP_011520571.1:p.Tyr679del
XR_429476.2:n.2041_2043del
XR_931960.1:n.2041_2043del
XR_931961.1:n.2042_2044del
NM_001365088.1:c.2035_2037del MANE Select	NP_001352017.1:p.Tyr679del
XM_006720793.4:c.1888_1890del	XP_006720856.1:p.Tyr630del
XM_011522269.3:c.2035_2037del	XP_011520571.1:p.Tyr679del
XR_931960.3:n.3285_3287del
NM_001042494.2:c.1858_1860del	NP_001035959.1:p.Tyr620del
NM_001042495.2:c.1858_1860del	NP_001035960.1:p.Tyr620del
NM_001042496.2:c.2008_2010del	NP_001035961.1:p.Tyr670del
NM_001042497.2:c.1990_1992del	NP_001035962.1:p.Tyr664del
NM_133647.2:c.2035_2037del	NP_598408.1:p.Tyr679del