Canonical Allele Identifier: CA721938748

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1398340893
• gnomAD v3: 16-56887794-ATATAT-A
• gnomAD v4: 16-56887794-ATATAT-A
• MyVariant Identifiers: chr16:g.56921707_56921711del (hg19) ; chr16:g.56887795_56887799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887796_56887800del , CM000678.2:g.56887796_56887800del	GRCh38
NC_000016.9:g.56921708_56921712del , CM000678.1:g.56921708_56921712del	GRCh37
NC_000016.8:g.55479209_55479213del	NCBI36
NG_009386.1:g.27590_27594del
NG_009386.2:g.27590_27594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-129_2179-125del MANE Select	ENSP00000456149.2:n.2179-129_2179-125del
ENST00000262502.5:c.2176-129_2176-125del	ENSP00000262502.5:n.2176-129_2176-125del
ENST00000438926.6:c.2179-129_2179-125del	ENSP00000402152.2:n.2179-129_2179-125del
ENST00000563236.5:c.2179-129_2179-125del	ENSP00000456149.1:n.2179-129_2179-125del
ENST00000566786.5:c.2176-129_2176-125del	ENSP00000457552.1:n.2176-129_2176-125del
NM_000339.2:c.2179-129_2179-125del	NP_000330.2:n.2179-129_2179-125del
NM_001126107.1:c.2176-129_2176-125del	NP_001119579.1:n.2176-129_2176-125del
NM_001126108.1:c.2179-129_2179-125del	NP_001119580.1:n.2179-129_2179-125del
XM_005256119.1:c.2176-129_2176-125del	XP_005256176.1:n.2176-129_2176-125del
XM_005256119.2:c.2176-129_2176-125del	XP_005256176.1:n.2176-129_2176-125del
NM_000339.3:c.2179-129_2179-125del	NP_000330.3:n.2179-129_2179-125del
NM_001126107.2:c.2176-129_2176-125del	NP_001119579.2:n.2176-129_2176-125del
NM_001126108.2:c.2179-129_2179-125del MANE Select	NP_001119580.2:n.2179-129_2179-125del