Canonical Allele Identifier: CA2628314580

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48226258-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226262_48226263del , CM000677.2:g.48226262_48226263del	GRCh38
NC_000015.9:g.48518459_48518460del , CM000677.1:g.48518459_48518460del	GRCh37
NC_000015.8:g.46305751_46305752del	NCBI36
NG_021301.1:g.24962_24963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+315_724+316del	ENSP00000508901.1:n.724+315_724+316del
ENST00000380993.8:c.629-214_629-213del MANE Select	ENSP00000370381.3:n.629-214_629-213del
ENST00000646012.1:c.767-214_767-213del	ENSP00000495813.1:n.767-214_767-213del
ENST00000647232.1:c.629-817_629-816del	ENSP00000493875.1:n.629-817_629-816del
ENST00000647546.1:c.629-214_629-213del	ENSP00000495332.1:n.629-214_629-213del
ENST00000330289.10:c.629-214_629-213del	ENSP00000331550.6:n.629-214_629-213del
ENST00000380993.7:c.629-214_629-213del	ENSP00000370381.3:n.629-214_629-213del
ENST00000396577.7:c.629-817_629-816del	ENSP00000379822.3:n.629-817_629-816del
ENST00000558252.5:n.3935_3936del
ENST00000558405.5:c.629-214_629-213del	ENSP00000453409.1:n.629-214_629-213del
ENST00000559641.5:c.68-214_68-213del	ENSP00000453230.1:n.68-214_68-213del
ENST00000559723.2:n.97+315_97+316del
ENST00000560692.5:n.1937_1938del
ENST00000561127.5:c.68-214_68-213del	ENSP00000453602.2:n.68-214_68-213del
NM_000338.2:c.629-214_629-213del	NP_000329.2:n.629-214_629-213del
NM_001184832.1:c.629-817_629-816del	NP_001171761.1:n.629-817_629-816del
XM_005254605.1:c.629-214_629-213del	XP_005254662.1:n.629-214_629-213del
XM_005254606.1:c.724+315_724+316del	XP_005254663.1:n.724+315_724+316del
XM_006720656.1:c.629-214_629-213del	XP_006720719.1:n.629-214_629-213del
XR_931896.1:n.845-214_845-213del
XM_005254606.2:c.724+315_724+316del	XP_005254663.1:n.724+315_724+316del
XR_001751524.2:n.364-727_364-726del
XR_001751525.1:n.364-727_364-726del
XR_002957762.1:n.364-727_364-726del
XR_932204.3:n.358-727_358-726del
NM_000338.3:c.629-214_629-213del MANE Select	NP_000329.2:n.629-214_629-213del
NM_001184832.2:c.629-817_629-816del	NP_001171761.1:n.629-817_629-816del
NM_001384136.1:c.724+315_724+316del	NP_001371065.1:n.724+315_724+316del