Canonical Allele Identifier: CA2628314707

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48226488-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226489del , CM000677.2:g.48226489del	GRCh38
NC_000015.9:g.48518686del , CM000677.1:g.48518686del	GRCh37
NC_000015.8:g.46305978del	NCBI36
NG_021301.1:g.25189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+542del	ENSP00000508901.1:n.724+542del
ENST00000380993.8:c.642del MANE Select	ENSP00000370381.3:p.Ile215Ter
ENST00000646012.1:c.780del	ENSP00000495813.1:p.Ile261Ter
ENST00000647232.1:c.629-590del	ENSP00000493875.1:n.629-590del
ENST00000647546.1:c.642del	ENSP00000495332.1:p.Ile215Ter
ENST00000330289.10:c.642del	ENSP00000331550.6:p.Ile215Ter
ENST00000380993.7:c.642del	ENSP00000370381.3:p.Ile215Ter
ENST00000396577.7:c.629-590del	ENSP00000379822.3:n.629-590del
ENST00000558252.5:n.4162del
ENST00000558405.5:c.642del	ENSP00000453409.1:p.Ile215Ter
ENST00000559641.5:c.81del	ENSP00000453230.1:p.Ile28Ter
ENST00000559723.2:n.97+542del
ENST00000560692.5:n.2164del
ENST00000561127.5:c.81del	ENSP00000453602.2:p.Ile28Ter
NM_000338.2:c.642del	NP_000329.2:p.Ile215Ter
NM_001184832.1:c.629-590del	NP_001171761.1:n.629-590del
XM_005254605.1:c.642del	XP_005254662.1:p.Ile215Ter
XM_005254606.1:c.724+542del	XP_005254663.1:n.724+542del
XM_006720656.1:c.642del	XP_006720719.1:p.Ile215Ter
XR_931896.1:n.858del
XM_005254606.2:c.724+542del	XP_005254663.1:n.724+542del
XR_001751524.2:n.364-956del
XR_001751525.1:n.364-956del
XR_002957762.1:n.364-956del
XR_932204.3:n.358-956del
NM_000338.3:c.642del MANE Select	NP_000329.2:p.Ile215Ter
NM_001184832.2:c.629-590del	NP_001171761.1:n.629-590del
NM_001384136.1:c.724+542del	NP_001371065.1:n.724+542del