Canonical Allele Identifier: CA2224357269

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886515_56886516delinsTG , CM000678.2:g.56886515_56886516delinsTG	GRCh38
NC_000016.9:g.56920427_56920428delinsTG , CM000678.1:g.56920427_56920428delinsTG	GRCh37
NC_000016.8:g.55477928_55477929delinsTG	NCBI36
NG_009386.1:g.26309_26310delinsTG
NG_009386.2:g.26309_26310delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2037+40_2037+41delinsTG MANE Select	ENSP00000456149.2:n.2037+40_2037+41delinsTG
ENST00000262502.5:c.2034+40_2034+41delinsTG	ENSP00000262502.5:n.2034+40_2034+41delinsTG
ENST00000438926.6:c.2037+40_2037+41delinsTG	ENSP00000402152.2:n.2037+40_2037+41delinsTG
ENST00000563236.5:c.2037+40_2037+41delinsTG	ENSP00000456149.1:n.2037+40_2037+41delinsTG
ENST00000566786.5:c.2034+40_2034+41delinsTG	ENSP00000457552.1:n.2034+40_2034+41delinsTG
NM_000339.2:c.2037+40_2037+41delinsTG	NP_000330.2:n.2037+40_2037+41delinsTG
NM_001126107.1:c.2034+40_2034+41delinsTG	NP_001119579.1:n.2034+40_2034+41delinsTG
NM_001126108.1:c.2037+40_2037+41delinsTG	NP_001119580.1:n.2037+40_2037+41delinsTG
XM_005256119.1:c.2034+40_2034+41delinsTG	XP_005256176.1:n.2034+40_2034+41delinsTG
XM_005256119.2:c.2034+40_2034+41delinsTG	XP_005256176.1:n.2034+40_2034+41delinsTG
NM_000339.3:c.2037+40_2037+41delinsTG	NP_000330.3:n.2037+40_2037+41delinsTG
NM_001126107.2:c.2034+40_2034+41delinsTG	NP_001119579.2:n.2034+40_2034+41delinsTG
NM_001126108.2:c.2037+40_2037+41delinsTG MANE Select	NP_001119580.2:n.2037+40_2037+41delinsTG