Canonical Allele Identifier: CA281509101

Gene: SLC12A3

Linked Data

• dbSNP Id: rs764943263
• gnomAD v2: 16-56920531-GCCTGGGTGTGATGT-G
• gnomAD v3: 16-56886619-GCCTGGGTGTGATGT-G
• gnomAD v4: 16-56886619-GCCTGGGTGTGATGT-G
• MyVariant Identifiers: chr16:g.56920532_56920545del (hg19) ; chr16:g.56886620_56886633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886622_56886635del , CM000678.2:g.56886622_56886635del	GRCh38
NC_000016.9:g.56920534_56920547del , CM000678.1:g.56920534_56920547del	GRCh37
NC_000016.8:g.55478035_55478048del	NCBI36
NG_009386.1:g.26416_26429del
NG_009386.2:g.26416_26429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2037+147_2037+160del MANE Select	ENSP00000456149.2:n.2037+147_2037+160del
ENST00000262502.5:c.2034+147_2034+160del	ENSP00000262502.5:n.2034+147_2034+160del
ENST00000438926.6:c.2037+147_2037+160del	ENSP00000402152.2:n.2037+147_2037+160del
ENST00000563236.5:c.2037+147_2037+160del	ENSP00000456149.1:n.2037+147_2037+160del
ENST00000566786.5:c.2034+147_2034+160del	ENSP00000457552.1:n.2034+147_2034+160del
NM_000339.2:c.2037+147_2037+160del	NP_000330.2:n.2037+147_2037+160del
NM_001126107.1:c.2034+147_2034+160del	NP_001119579.1:n.2034+147_2034+160del
NM_001126108.1:c.2037+147_2037+160del	NP_001119580.1:n.2037+147_2037+160del
XM_005256119.1:c.2034+147_2034+160del	XP_005256176.1:n.2034+147_2034+160del
XM_005256119.2:c.2034+147_2034+160del	XP_005256176.1:n.2034+147_2034+160del
NM_000339.3:c.2037+147_2037+160del	NP_000330.3:n.2037+147_2037+160del
NM_001126107.2:c.2034+147_2034+160del	NP_001119579.2:n.2034+147_2034+160del
NM_001126108.2:c.2037+147_2037+160del MANE Select	NP_001119580.2:n.2037+147_2037+160del