Canonical Allele Identifier: CA16041715
Gene: SLC12A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 371519
ClinVar RCV Id: RCV000409518
dbSNP Id: rs1057517334
MyVariant Identifiers: chr15:g.34528992_34529001del (hg19) chr15:g.34236791_34236800del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34236796_34236805del , CM000677.2:g.34236796_34236805del GRCh38
NC_000015.9:g.34528997_34529006del , CM000677.1:g.34528997_34529006del GRCh37
NC_000015.8:g.32316289_32316298del NCBI36
NG_007951.1:g.106265_106274del , LRG_270:g.106265_106274del

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2950_2959del MANE Select ENSP00000346112.3:p.Ser984LeufsTer6
ENST00000676379.1:c.2950_2959del ENSP00000502539.1:p.Ser984LeufsTer6
ENST00000290209.9:c.2797_2806del ENSP00000290209.5:p.Ser933LeufsTer6
ENST00000354181.7:c.2950_2959del ENSP00000346112.3:p.Ser984LeufsTer6
ENST00000397702.6:c.2773_2782del ENSP00000380814.2:p.Ser925LeufsTer6
ENST00000397707.6:c.2905_2914del ENSP00000380819.2:p.Ser969LeufsTer6
ENST00000458406.6:c.2773_2782del ENSP00000387725.2:p.Ser925LeufsTer6
ENST00000558589.5:c.2923_2932del ENSP00000452776.1:p.Ser975LeufsTer6
ENST00000558667.5:c.2950_2959del ENSP00000453473.1:p.Ser984LeufsTer6
ENST00000559523.5:c.2802_2811del ENSP00000452904.1:p.Gln935LeufsTer?
ENST00000559664.5:c.*159_*168del ENSP00000453702.1:n.*159_*168del
ENST00000560164.5:c.2386_2395del ENSP00000452705.1:p.Ser796LeufsTer6
ENST00000560611.5:c.2950_2959del ENSP00000454168.1:p.Ser984LeufsTer6
ENST00000561080.5:c.*188_*197del ENSP00000454069.1:n.*188_*197del
NM_001042494.1:c.2773_2782del NP_001035959.1:p.Ser925LeufsTer6
NM_001042495.1:c.2773_2782del NP_001035960.1:p.Ser925LeufsTer6
NM_001042496.1:c.2923_2932del NP_001035961.1:p.Ser975LeufsTer6
NM_001042497.1:c.2905_2914del NP_001035962.1:p.Ser969LeufsTer6
NM_005135.2:c.2797_2806del , LRG_270t1:c.2797_2806del NP_005126.1:p.Ser933LeufsTer6
NM_133647.1:c.2950_2959del , LRG_270t2:c.2950_2959del NP_598408.1:p.Ser984LeufsTer6
XM_006720793.2:c.2803_2812del XP_006720856.1:p.Ser935LeufsTer6
XM_011522267.1:c.2950_2959del XP_011520569.1:p.Ser984LeufsTer6
XM_011522268.1:c.2950_2959del XP_011520570.1:p.Ser984LeufsTer6
XR_429476.2:n.2956_2965del
XR_931960.1:n.2985_2994del
NM_001365088.1:c.2950_2959del MANE Select NP_001352017.1:p.Ser984LeufsTer6
XM_006720793.4:c.2803_2812del XP_006720856.1:p.Ser935LeufsTer6
XR_931960.3:n.4229_4238del
NM_001042494.2:c.2773_2782del NP_001035959.1:p.Ser925LeufsTer6
NM_001042495.2:c.2773_2782del NP_001035960.1:p.Ser925LeufsTer6
NM_001042496.2:c.2923_2932del NP_001035961.1:p.Ser975LeufsTer6
NM_001042497.2:c.2905_2914del NP_001035962.1:p.Ser969LeufsTer6
NM_133647.2:c.2950_2959del NP_598408.1:p.Ser984LeufsTer6
Search 100 bp 5'
Search 100 bp 3'