Canonical Allele Identifier: CA2175391604

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226653_48226654delinsCA , CM000677.2:g.48226653_48226654delinsCA	GRCh38
NC_000015.9:g.48518850_48518851delinsCA , CM000677.1:g.48518850_48518851delinsCA	GRCh37
NC_000015.8:g.46306142_46306143delinsCA	NCBI36
NG_021301.1:g.25353_25354delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+706_724+707delinsCA	ENSP00000508901.1:n.724+706_724+707delinsCA
ENST00000380993.8:c.724+82_724+83delinsCA MANE Select	ENSP00000370381.3:n.724+82_724+83delinsCA
ENST00000646012.1:c.862+82_862+83delinsCA	ENSP00000495813.1:n.862+82_862+83delinsCA
ENST00000647232.1:c.629-426_629-425delinsCA	ENSP00000493875.1:n.629-426_629-425delinsCA
ENST00000647546.1:c.724+82_724+83delinsCA	ENSP00000495332.1:n.724+82_724+83delinsCA
ENST00000330289.10:c.724+82_724+83delinsCA	ENSP00000331550.6:n.724+82_724+83delinsCA
ENST00000380993.7:c.724+82_724+83delinsCA	ENSP00000370381.3:n.724+82_724+83delinsCA
ENST00000396577.7:c.629-426_629-425delinsCA	ENSP00000379822.3:n.629-426_629-425delinsCA
ENST00000558252.5:n.4326_4327delinsCA
ENST00000558405.5:c.724+82_724+83delinsCA	ENSP00000453409.1:n.724+82_724+83delinsCA
ENST00000559641.5:c.163+82_163+83delinsCA	ENSP00000453230.1:n.163+82_163+83delinsCA
ENST00000559723.2:n.97+706_97+707delinsCA
ENST00000560692.5:n.2328_2329delinsCA
ENST00000561127.5:c.163+82_163+83delinsCA	ENSP00000453602.2:n.163+82_163+83delinsCA
NM_000338.2:c.724+82_724+83delinsCA	NP_000329.2:n.724+82_724+83delinsCA
NM_001184832.1:c.629-426_629-425delinsCA	NP_001171761.1:n.629-426_629-425delinsCA
XM_005254605.1:c.724+82_724+83delinsCA	XP_005254662.1:n.724+82_724+83delinsCA
XM_005254606.1:c.724+706_724+707delinsCA	XP_005254663.1:n.724+706_724+707delinsCA
XM_006720656.1:c.724+82_724+83delinsCA	XP_006720719.1:n.724+82_724+83delinsCA
XR_931896.1:n.940+82_940+83delinsCA
XM_005254606.2:c.724+706_724+707delinsCA	XP_005254663.1:n.724+706_724+707delinsCA
XR_001751524.2:n.363+807_363+808delinsTG
XR_001751525.1:n.363+807_363+808delinsTG
XR_002957762.1:n.363+807_363+808delinsTG
XR_932204.3:n.357+807_357+808delinsTG
NM_000338.3:c.724+82_724+83delinsCA MANE Select	NP_000329.2:n.724+82_724+83delinsCA
NM_001184832.2:c.629-426_629-425delinsCA	NP_001171761.1:n.629-426_629-425delinsCA
NM_001384136.1:c.724+706_724+707delinsCA	NP_001371065.1:n.724+706_724+707delinsCA