Canonical Allele Identifier: CA2224353794

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879226_56879232delinsAGGTACT , CM000678.2:g.56879226_56879232delinsAGGTACT	GRCh38
NC_000016.9:g.56913138_56913144delinsAGGTACT , CM000678.1:g.56913138_56913144delinsAGGTACT	GRCh37
NC_000016.8:g.55470639_55470645delinsAGGTACT	NCBI36
NG_009386.1:g.19020_19026delinsAGGTACT
NG_009386.2:g.19020_19026delinsAGGTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1334_1335+5delinsAGGTACT
ENST00000262502.5:c.1331_1332+5delinsAGGTACT
ENST00000438926.6:c.1334_1335+5delinsAGGTACT
ENST00000563236.5:c.1334_1335+5delinsAGGTACT
ENST00000566786.5:c.1331_1332+5delinsAGGTACT
NM_000339.2:c.1334_1335+5delinsAGGTACT
NM_001126107.1:c.1331_1332+5delinsAGGTACT
NM_001126108.1:c.1334_1335+5delinsAGGTACT
XM_005256119.1:c.1331_1332+5delinsAGGTACT
XM_005256119.2:c.1331_1332+5delinsAGGTACT
NM_000339.3:c.1334_1335+5delinsAGGTACT
NM_001126107.2:c.1331_1332+5delinsAGGTACT
NM_001126108.2:c.1334_1335+5delinsAGGTACT