Canonical Allele Identifier: CA2224361296

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894685_56894686delinsTG , CM000678.2:g.56894685_56894686delinsTG	GRCh38
NC_000016.9:g.56928597_56928598delinsTG , CM000678.1:g.56928597_56928598delinsTG	GRCh37
NC_000016.8:g.55486098_55486099delinsTG	NCBI36
NG_009386.1:g.34479_34480delinsTG
NG_009386.2:g.34479_34480delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2633+43_2633+44delinsTG MANE Select	ENSP00000456149.2:n.2633+43_2633+44delinsTG
ENST00000262502.5:c.2630+43_2630+44delinsTG	ENSP00000262502.5:n.2630+43_2630+44delinsTG
ENST00000438926.6:c.2660+43_2660+44delinsTG	ENSP00000402152.2:n.2660+43_2660+44delinsTG
ENST00000563236.5:c.2633+43_2633+44delinsTG	ENSP00000456149.1:n.2633+43_2633+44delinsTG
ENST00000566786.5:c.2657+43_2657+44delinsTG	ENSP00000457552.1:n.2657+43_2657+44delinsTG
NM_000339.2:c.2660+43_2660+44delinsTG	NP_000330.2:n.2660+43_2660+44delinsTG
NM_001126107.1:c.2657+43_2657+44delinsTG	NP_001119579.1:n.2657+43_2657+44delinsTG
NM_001126108.1:c.2633+43_2633+44delinsTG	NP_001119580.1:n.2633+43_2633+44delinsTG
XM_005256119.1:c.2630+43_2630+44delinsTG	XP_005256176.1:n.2630+43_2630+44delinsTG
XM_005256119.2:c.2630+43_2630+44delinsTG	XP_005256176.1:n.2630+43_2630+44delinsTG
NM_000339.3:c.2660+43_2660+44delinsTG	NP_000330.3:n.2660+43_2660+44delinsTG
NM_001126107.2:c.2657+43_2657+44delinsTG	NP_001119579.2:n.2657+43_2657+44delinsTG
NM_001126108.2:c.2633+43_2633+44delinsTG MANE Select	NP_001119580.2:n.2633+43_2633+44delinsTG