Canonical Allele Identifier: CA622334039

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1277731309
• gnomAD v2: 16-56904201-TCTC-T
• gnomAD v3: 16-56870289-TCTC-T
• gnomAD v4: 16-56870289-TCTC-T
• MyVariant Identifiers: chr16:g.56904202_56904204del (hg19) ; chr16:g.56870290_56870292del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870294_56870296del , CM000678.2:g.56870294_56870296del	GRCh38
NC_000016.9:g.56904206_56904208del , CM000678.1:g.56904206_56904208del	GRCh37
NC_000016.8:g.55461707_55461709del	NCBI36
NG_009386.1:g.10088_10090del
NG_009386.2:g.10088_10090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.741+59_741+61del MANE Select	ENSP00000456149.2:n.741+59_741+61del
ENST00000262502.5:c.738+59_738+61del	ENSP00000262502.5:n.738+59_738+61del
ENST00000438926.6:c.741+59_741+61del	ENSP00000402152.2:n.741+59_741+61del
ENST00000563236.5:c.741+59_741+61del	ENSP00000456149.1:n.741+59_741+61del
ENST00000566786.5:c.738+59_738+61del	ENSP00000457552.1:n.738+59_738+61del
NM_000339.2:c.741+59_741+61del	NP_000330.2:n.741+59_741+61del
NM_001126107.1:c.738+59_738+61del	NP_001119579.1:n.738+59_738+61del
NM_001126108.1:c.741+59_741+61del	NP_001119580.1:n.741+59_741+61del
XM_005256119.1:c.738+59_738+61del	XP_005256176.1:n.738+59_738+61del
XM_005256119.2:c.738+59_738+61del	XP_005256176.1:n.738+59_738+61del
NM_000339.3:c.741+59_741+61del	NP_000330.3:n.741+59_741+61del
NM_001126107.2:c.738+59_738+61del	NP_001119579.2:n.738+59_738+61del
NM_001126108.2:c.741+59_741+61del MANE Select	NP_001119580.2:n.741+59_741+61del