Canonical Allele Identifier: CA2224364856

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902511_56902513delinsGCA , CM000678.2:g.56902511_56902513delinsGCA	GRCh38
NC_000016.9:g.56936423_56936425delinsGCA , CM000678.1:g.56936423_56936425delinsGCA	GRCh37
NC_000016.8:g.55493924_55493926delinsGCA	NCBI36
NG_009386.1:g.42305_42307delinsGCA
NG_009386.2:g.42305_42307delinsGCA

Transcript Alleles

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