Canonical Allele Identifier: CA2224364912

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902623_56902627delinsTCCGG , CM000678.2:g.56902623_56902627delinsTCCGG	GRCh38
NC_000016.9:g.56936535_56936539delinsTCCGG , CM000678.1:g.56936535_56936539delinsTCCGG	GRCh37
NC_000016.8:g.55494036_55494040delinsTCCGG	NCBI36
NG_009386.1:g.42417_42421delinsTCCGG
NG_009386.2:g.42417_42421delinsTCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+115_2856+119delinsTCCGG MANE Select	ENSP00000456149.2:n.2856+115_2856+119delinsTCCGG
ENST00000262502.5:c.2853+115_2853+119delinsTCCGG	ENSP00000262502.5:n.2853+115_2853+119delinsTCCGG
ENST00000438926.6:c.2883+115_2883+119delinsTCCGG	ENSP00000402152.2:n.2883+115_2883+119delinsTCCGG
ENST00000563236.5:c.2856+115_2856+119delinsTCCGG	ENSP00000456149.1:n.2856+115_2856+119delinsTCCGG
ENST00000566786.5:c.2880+115_2880+119delinsTCCGG	ENSP00000457552.1:n.2880+115_2880+119delinsTCCGG
ENST00000569002.1:n.287+115_287+119delinsTCCGG
NM_000339.2:c.2883+115_2883+119delinsTCCGG	NP_000330.2:n.2883+115_2883+119delinsTCCGG
NM_001126107.1:c.2880+115_2880+119delinsTCCGG	NP_001119579.1:n.2880+115_2880+119delinsTCCGG
NM_001126108.1:c.2856+115_2856+119delinsTCCGG	NP_001119580.1:n.2856+115_2856+119delinsTCCGG
XM_005256119.1:c.2853+115_2853+119delinsTCCGG	XP_005256176.1:n.2853+115_2853+119delinsTCCGG
XM_005256119.2:c.2853+115_2853+119delinsTCCGG	XP_005256176.1:n.2853+115_2853+119delinsTCCGG
NM_000339.3:c.2883+115_2883+119delinsTCCGG	NP_000330.3:n.2883+115_2883+119delinsTCCGG
NM_001126107.2:c.2880+115_2880+119delinsTCCGG	NP_001119579.2:n.2880+115_2880+119delinsTCCGG
NM_001126108.2:c.2856+115_2856+119delinsTCCGG MANE Select	NP_001119580.2:n.2856+115_2856+119delinsTCCGG