Canonical Allele Identifier: CA2175420377

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 2767513
• ClinVar RCV Id: RCV003573937
• dbSNP Id: rs1800598427

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251786_48251789del , CM000677.2:g.48251786_48251789del	GRCh38
NC_000015.9:g.48543983_48543986del , CM000677.1:g.48543983_48543986del	GRCh37
NC_000015.8:g.46331275_46331278del	NCBI36
NG_021301.1:g.50486_50489del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1942+16_1942+19del	ENSP00000508901.1:n.1942+16_1942+19del
ENST00000380993.8:c.1942+16_1942+19del MANE Select	ENSP00000370381.3:n.1942+16_1942+19del
ENST00000646012.1:c.2080+16_2080+19del	ENSP00000495813.1:n.2080+16_2080+19del
ENST00000647232.1:c.1942+16_1942+19del	ENSP00000493875.1:n.1942+16_1942+19del
ENST00000647546.1:c.1942+16_1942+19del	ENSP00000495332.1:n.1942+16_1942+19del
ENST00000380993.7:c.1942+16_1942+19del	ENSP00000370381.3:n.1942+16_1942+19del
ENST00000396577.7:c.1942+16_1942+19del	ENSP00000379822.3:n.1942+16_1942+19del
ENST00000558252.5:n.6065+16_6065+19del
ENST00000558405.5:c.1942+16_1942+19del	ENSP00000453409.1:n.1942+16_1942+19del
ENST00000559641.5:c.1381+16_1381+19del	ENSP00000453230.1:n.1381+16_1381+19del
ENST00000560692.5:n.6081+16_6081+19del
NM_000338.2:c.1942+16_1942+19del	NP_000329.2:n.1942+16_1942+19del
NM_001184832.1:c.1942+16_1942+19del	NP_001171761.1:n.1942+16_1942+19del
XM_005254605.1:c.2038+16_2038+19del	XP_005254662.1:n.2038+16_2038+19del
XM_005254606.1:c.1942+16_1942+19del	XP_005254663.1:n.1942+16_1942+19del
XM_006720656.1:c.2038+16_2038+19del	XP_006720719.1:n.2038+16_2038+19del
XR_931896.1:n.2254+16_2254+19del
XM_005254606.2:c.1942+16_1942+19del	XP_005254663.1:n.1942+16_1942+19del
NM_000338.3:c.1942+16_1942+19del MANE Select	NP_000329.2:n.1942+16_1942+19del
NM_001184832.2:c.1942+16_1942+19del	NP_001171761.1:n.1942+16_1942+19del
NM_001384136.1:c.1942+16_1942+19del	NP_001371065.1:n.1942+16_1942+19del