Canonical Allele Identifier: CA2224357351

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886688_56886689delinsAC , CM000678.2:g.56886688_56886689delinsAC	GRCh38
NC_000016.9:g.56920600_56920601delinsAC , CM000678.1:g.56920600_56920601delinsAC	GRCh37
NC_000016.8:g.55478101_55478102delinsAC	NCBI36
NG_009386.1:g.26482_26483delinsAC
NG_009386.2:g.26482_26483delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2037+213_2037+214delinsAC MANE Select	ENSP00000456149.2:n.2037+213_2037+214delinsAC
ENST00000262502.5:c.2034+213_2034+214delinsAC	ENSP00000262502.5:n.2034+213_2034+214delinsAC
ENST00000438926.6:c.2037+213_2037+214delinsAC	ENSP00000402152.2:n.2037+213_2037+214delinsAC
ENST00000563236.5:c.2037+213_2037+214delinsAC	ENSP00000456149.1:n.2037+213_2037+214delinsAC
ENST00000566786.5:c.2034+213_2034+214delinsAC	ENSP00000457552.1:n.2034+213_2034+214delinsAC
NM_000339.2:c.2037+213_2037+214delinsAC	NP_000330.2:n.2037+213_2037+214delinsAC
NM_001126107.1:c.2034+213_2034+214delinsAC	NP_001119579.1:n.2034+213_2034+214delinsAC
NM_001126108.1:c.2037+213_2037+214delinsAC	NP_001119580.1:n.2037+213_2037+214delinsAC
XM_005256119.1:c.2034+213_2034+214delinsAC	XP_005256176.1:n.2034+213_2034+214delinsAC
XM_005256119.2:c.2034+213_2034+214delinsAC	XP_005256176.1:n.2034+213_2034+214delinsAC
NM_000339.3:c.2037+213_2037+214delinsAC	NP_000330.3:n.2037+213_2037+214delinsAC
NM_001126107.2:c.2034+213_2034+214delinsAC	NP_001119579.2:n.2034+213_2034+214delinsAC
NM_001126108.2:c.2037+213_2037+214delinsAC MANE Select	NP_001119580.2:n.2037+213_2037+214delinsAC