Canonical Allele Identifier: CA721938534

Gene: SLC12A3

Linked Data

• dbSNP Id: rs796502149
• gnomAD v3: 16-56887772-T-TTTTATATATATATATA
• gnomAD v4: 16-56887772-T-TTTTATATATATATATA
• MyVariant Identifiers: chr16:g.56921684_56921685insTTTATATATATATATA (hg19) ; chr16:g.56887772_56887773insTTTATATATATATATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887773_56887774insTTATATATATATATAT , CM000678.2:g.56887773_56887774insTTATATATATATATAT	GRCh38
NC_000016.9:g.56921685_56921686insTTATATATATATATAT , CM000678.1:g.56921685_56921686insTTATATATATATATAT	GRCh37
NC_000016.8:g.55479186_55479187insTTATATATATATATAT	NCBI36
NG_009386.1:g.27567_27568insTTATATATATATATAT
NG_009386.2:g.27567_27568insTTATATATATATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-152_2179-151insTTATATATATATATAT MANE Select	ENSP00000456149.2:n.2179-152_2179-151insTTATATATATATATAT
ENST00000262502.5:c.2176-152_2176-151insTTATATATATATATAT	ENSP00000262502.5:n.2176-152_2176-151insTTATATATATATATAT
ENST00000438926.6:c.2179-152_2179-151insTTATATATATATATAT	ENSP00000402152.2:n.2179-152_2179-151insTTATATATATATATAT
ENST00000563236.5:c.2179-152_2179-151insTTATATATATATATAT	ENSP00000456149.1:n.2179-152_2179-151insTTATATATATATATAT
ENST00000566786.5:c.2176-152_2176-151insTTATATATATATATAT	ENSP00000457552.1:n.2176-152_2176-151insTTATATATATATATAT
NM_000339.2:c.2179-152_2179-151insTTATATATATATATAT	NP_000330.2:n.2179-152_2179-151insTTATATATATATATAT
NM_001126107.1:c.2176-152_2176-151insTTATATATATATATAT	NP_001119579.1:n.2176-152_2176-151insTTATATATATATATAT
NM_001126108.1:c.2179-152_2179-151insTTATATATATATATAT	NP_001119580.1:n.2179-152_2179-151insTTATATATATATATAT
XM_005256119.1:c.2176-152_2176-151insTTATATATATATATAT	XP_005256176.1:n.2176-152_2176-151insTTATATATATATATAT
XM_005256119.2:c.2176-152_2176-151insTTATATATATATATAT	XP_005256176.1:n.2176-152_2176-151insTTATATATATATATAT
NM_000339.3:c.2179-152_2179-151insTTATATATATATATAT	NP_000330.3:n.2179-152_2179-151insTTATATATATATATAT
NM_001126107.2:c.2176-152_2176-151insTTATATATATATATAT	NP_001119579.2:n.2176-152_2176-151insTTATATATATATATAT
NM_001126108.2:c.2179-152_2179-151insTTATATATATATATAT MANE Select	NP_001119580.2:n.2179-152_2179-151insTTATATATATATATAT