Canonical Allele Identifier: CA2224358028

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887882_56887883delinsGC , CM000678.2:g.56887882_56887883delinsGC	GRCh38
NC_000016.9:g.56921794_56921795delinsGC , CM000678.1:g.56921794_56921795delinsGC	GRCh37
NC_000016.8:g.55479295_55479296delinsGC	NCBI36
NG_009386.1:g.27676_27677delinsGC
NG_009386.2:g.27676_27677delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-43_2179-42delinsGC MANE Select	ENSP00000456149.2:n.2179-43_2179-42delinsGC
ENST00000262502.5:c.2176-43_2176-42delinsGC	ENSP00000262502.5:n.2176-43_2176-42delinsGC
ENST00000438926.6:c.2179-43_2179-42delinsGC	ENSP00000402152.2:n.2179-43_2179-42delinsGC
ENST00000563236.5:c.2179-43_2179-42delinsGC	ENSP00000456149.1:n.2179-43_2179-42delinsGC
ENST00000566786.5:c.2176-43_2176-42delinsGC	ENSP00000457552.1:n.2176-43_2176-42delinsGC
NM_000339.2:c.2179-43_2179-42delinsGC	NP_000330.2:n.2179-43_2179-42delinsGC
NM_001126107.1:c.2176-43_2176-42delinsGC	NP_001119579.1:n.2176-43_2176-42delinsGC
NM_001126108.1:c.2179-43_2179-42delinsGC	NP_001119580.1:n.2179-43_2179-42delinsGC
XM_005256119.1:c.2176-43_2176-42delinsGC	XP_005256176.1:n.2176-43_2176-42delinsGC
XM_005256119.2:c.2176-43_2176-42delinsGC	XP_005256176.1:n.2176-43_2176-42delinsGC
NM_000339.3:c.2179-43_2179-42delinsGC	NP_000330.3:n.2179-43_2179-42delinsGC
NM_001126107.2:c.2176-43_2176-42delinsGC	NP_001119579.2:n.2176-43_2176-42delinsGC
NM_001126108.2:c.2179-43_2179-42delinsGC MANE Select	NP_001119580.2:n.2179-43_2179-42delinsGC