Canonical Allele Identifier: CA617822481
Gene: SLC12A1 HGNC NCBI

Linked Data

dbSNP Id: rs1567311258
MyVariant Identifiers: chr15:g.48521532del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229338del , CM000677.2:g.48229338del GRCh38
NC_000015.9:g.48521535del , CM000677.1:g.48521535del GRCh37
NC_000015.8:g.46308827del NCBI36
NG_021301.1:g.28038del

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.864+10del ENSP00000508901.1:n.864+10del
ENST00000380993.8:c.864+10del MANE Select ENSP00000370381.3:n.864+10del
ENST00000646012.1:c.1002+10del ENSP00000495813.1:n.1002+10del
ENST00000647232.1:c.864+10del ENSP00000493875.1:n.864+10del
ENST00000647546.1:c.864+10del ENSP00000495332.1:n.864+10del
ENST00000330289.10:c.864+10del ENSP00000331550.6:n.864+10del
ENST00000380993.7:c.864+10del ENSP00000370381.3:n.864+10del
ENST00000396577.7:c.864+10del ENSP00000379822.3:n.864+10del
ENST00000558252.5:n.4987+10del
ENST00000558405.5:c.864+10del ENSP00000453409.1:n.864+10del
ENST00000559641.5:c.303+10del ENSP00000453230.1:n.303+10del
ENST00000559723.2:n.237+10del
ENST00000560692.5:n.5003+10del
ENST00000561127.5:c.303+10del ENSP00000453602.2:n.303+10del
NM_000338.2:c.864+10del NP_000329.2:n.864+10del
NM_001184832.1:c.864+10del NP_001171761.1:n.864+10del
XM_005254605.1:c.960+10del XP_005254662.1:n.960+10del
XM_005254606.1:c.864+10del XP_005254663.1:n.864+10del
XM_006720656.1:c.960+10del XP_006720719.1:n.960+10del
XR_931896.1:n.1176+10del
XR_932203.1:n.229+621del
XR_932204.1:n.222+621del
XM_005254606.2:c.864+10del XP_005254663.1:n.864+10del
XR_001751524.2:n.230+621del
XR_001751525.1:n.230+621del
XR_002957762.1:n.230+621del
XR_932204.3:n.224+621del
NM_000338.3:c.864+10del MANE Select NP_000329.2:n.864+10del
NM_001184832.2:c.864+10del NP_001171761.1:n.864+10del
NM_001384136.1:c.864+10del NP_001371065.1:n.864+10del