Canonical Allele Identifier: CA7546831

Gene: SLC12A1

Linked Data

• dbSNP Id: rs761803103
• ExAC: 15:48518690 ATTC / A
• gnomAD v2: 15-48518690-ATTC-A
• gnomAD v4: 15-48226493-ATTC-A
• MyVariant Identifiers: chr15:g.48518691_48518693del (hg19) ; chr15:g.48226494_48226496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226499_48226501del , CM000677.2:g.48226499_48226501del	GRCh38
NC_000015.9:g.48518696_48518698del , CM000677.1:g.48518696_48518698del	GRCh37
NC_000015.8:g.46305988_46305990del	NCBI36
NG_021301.1:g.25199_25201del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.724+552_724+554del	ENSP00000508901.1:n.724+552_724+554del
ENST00000380993.8:c.652_654del MANE Select	ENSP00000370381.3:p.Leu218del
ENST00000646012.1:c.790_792del	ENSP00000495813.1:p.Leu264del
ENST00000647232.1:c.629-580_629-578del	ENSP00000493875.1:n.629-580_629-578del
ENST00000647546.1:c.652_654del	ENSP00000495332.1:p.Leu218del
ENST00000330289.10:c.652_654del	ENSP00000331550.6:p.Leu218del
ENST00000380993.7:c.652_654del	ENSP00000370381.3:p.Leu218del
ENST00000396577.7:c.629-580_629-578del	ENSP00000379822.3:n.629-580_629-578del
ENST00000558252.5:n.4172_4174del
ENST00000558405.5:c.652_654del	ENSP00000453409.1:p.Leu218del
ENST00000559641.5:c.91_93del	ENSP00000453230.1:p.Leu31del
ENST00000559723.2:n.97+552_97+554del
ENST00000560692.5:n.2174_2176del
ENST00000561127.5:c.91_93del	ENSP00000453602.2:p.Leu31del
NM_000338.2:c.652_654del	NP_000329.2:p.Leu218del
NM_001184832.1:c.629-580_629-578del	NP_001171761.1:n.629-580_629-578del
XM_005254605.1:c.652_654del	XP_005254662.1:p.Leu218del
XM_005254606.1:c.724+552_724+554del	XP_005254663.1:n.724+552_724+554del
XM_006720656.1:c.652_654del	XP_006720719.1:p.Leu218del
XR_931896.1:n.868_870del
XM_005254606.2:c.724+552_724+554del	XP_005254663.1:n.724+552_724+554del
XR_001751524.2:n.364-963_364-961del
XR_001751525.1:n.364-963_364-961del
XR_002957762.1:n.364-963_364-961del
XR_932204.3:n.358-963_358-961del
NM_000338.3:c.652_654del MANE Select	NP_000329.2:p.Leu218del
NM_001184832.2:c.629-580_629-578del	NP_001171761.1:n.629-580_629-578del
NM_001384136.1:c.724+552_724+554del	NP_001371065.1:n.724+552_724+554del