Canonical Allele Identifier: CA8069949

Gene: SLC12A3

Linked Data

• dbSNP Id: rs764133080
• ExAC: 16:56928403 GTGTAT / G
• gnomAD v2: 16-56928403-GTGTAT-G
• gnomAD v4: 16-56894491-GTGTAT-G
• MyVariant Identifiers: chr16:g.56928404_56928408del (hg19) ; chr16:g.56894492_56894496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894493_56894497del , CM000678.2:g.56894493_56894497del	GRCh38
NC_000016.9:g.56928405_56928409del , CM000678.1:g.56928405_56928409del	GRCh37
NC_000016.8:g.55485906_55485910del	NCBI36
NG_009386.1:g.34287_34291del
NG_009386.2:g.34287_34291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2522-38_2522-34del MANE Select	ENSP00000456149.2:n.2522-38_2522-34del
ENST00000262502.5:c.2519-38_2519-34del	ENSP00000262502.5:n.2519-38_2519-34del
ENST00000438926.6:c.2549-38_2549-34del	ENSP00000402152.2:n.2549-38_2549-34del
ENST00000563236.5:c.2522-38_2522-34del	ENSP00000456149.1:n.2522-38_2522-34del
ENST00000566786.5:c.2546-38_2546-34del	ENSP00000457552.1:n.2546-38_2546-34del
NM_000339.2:c.2549-38_2549-34del	NP_000330.2:n.2549-38_2549-34del
NM_001126107.1:c.2546-38_2546-34del	NP_001119579.1:n.2546-38_2546-34del
NM_001126108.1:c.2522-38_2522-34del	NP_001119580.1:n.2522-38_2522-34del
XM_005256119.1:c.2519-38_2519-34del	XP_005256176.1:n.2519-38_2519-34del
XM_005256119.2:c.2519-38_2519-34del	XP_005256176.1:n.2519-38_2519-34del
NM_000339.3:c.2549-38_2549-34del	NP_000330.3:n.2549-38_2549-34del
NM_001126107.2:c.2546-38_2546-34del	NP_001119579.2:n.2546-38_2546-34del
NM_001126108.2:c.2522-38_2522-34del MANE Select	NP_001119580.2:n.2522-38_2522-34del