Canonical Allele Identifier: CA2224361179

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894479_56894481delinsGCT , CM000678.2:g.56894479_56894481delinsGCT	GRCh38
NC_000016.9:g.56928391_56928393delinsGCT , CM000678.1:g.56928391_56928393delinsGCT	GRCh37
NC_000016.8:g.55485892_55485894delinsGCT	NCBI36
NG_009386.1:g.34273_34275delinsGCT
NG_009386.2:g.34273_34275delinsGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2522-52_2522-50delinsGCT MANE Select	ENSP00000456149.2:n.2522-52_2522-50delins...
ENST00000262502.5:c.2519-52_2519-50delinsGCT	ENSP00000262502.5:n.2519-52_2519-50delins...
ENST00000438926.6:c.2549-52_2549-50delinsGCT	ENSP00000402152.2:n.2549-52_2549-50delins...
ENST00000563236.5:c.2522-52_2522-50delinsGCT	ENSP00000456149.1:n.2522-52_2522-50delins...
ENST00000566786.5:c.2546-52_2546-50delinsGCT	ENSP00000457552.1:n.2546-52_2546-50delins...
NM_000339.2:c.2549-52_2549-50delinsGCT	NP_000330.2:n.2549-52_2549-50delinsGCT
NM_001126107.1:c.2546-52_2546-50delinsGCT	NP_001119579.1:n.2546-52_2546-50delinsGCT...
NM_001126108.1:c.2522-52_2522-50delinsGCT	NP_001119580.1:n.2522-52_2522-50delinsGCT...
XM_005256119.1:c.2519-52_2519-50delinsGCT	XP_005256176.1:n.2519-52_2519-50delinsGCT...
XM_005256119.2:c.2519-52_2519-50delinsGCT	XP_005256176.1:n.2519-52_2519-50delinsGCT...
NM_000339.3:c.2549-52_2549-50delinsGCT	NP_000330.3:n.2549-52_2549-50delinsGCT
NM_001126107.2:c.2546-52_2546-50delinsGCT	NP_001119579.2:n.2546-52_2546-50delinsGCT...
NM_001126108.2:c.2522-52_2522-50delinsGCT MANE Select	NP_001119580.2:n.2522-52_2522-50delinsGCT...