Canonical Allele Identifier: CA2633374587

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56886551-A-ACCTGTCTTGGCTCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886551_56886552insCCTGTCTTGGCTCCCC , CM000678.2:g.56886551_56886552insCCTGTCTTGGCTCCCC	GRCh38
NC_000016.9:g.56920463_56920464insCCTGTCTTGGCTCCCC , CM000678.1:g.56920463_56920464insCCTGTCTTGGCTCCCC	GRCh37
NC_000016.8:g.55477964_55477965insCCTGTCTTGGCTCCCC	NCBI36
NG_009386.1:g.26345_26346insCCTGTCTTGGCTCCCC
NG_009386.2:g.26345_26346insCCTGTCTTGGCTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2037+76_2037+77insCCTGTCTTGGCTCCCC MANE Select	ENSP00000456149.2:n.2037+76_2037+77insCCTGTCTTGGCTCCCC
ENST00000262502.5:c.2034+76_2034+77insCCTGTCTTGGCTCCCC	ENSP00000262502.5:n.2034+76_2034+77insCCTGTCTTGGCTCCCC
ENST00000438926.6:c.2037+76_2037+77insCCTGTCTTGGCTCCCC	ENSP00000402152.2:n.2037+76_2037+77insCCTGTCTTGGCTCCCC
ENST00000563236.5:c.2037+76_2037+77insCCTGTCTTGGCTCCCC	ENSP00000456149.1:n.2037+76_2037+77insCCTGTCTTGGCTCCCC
ENST00000566786.5:c.2034+76_2034+77insCCTGTCTTGGCTCCCC	ENSP00000457552.1:n.2034+76_2034+77insCCTGTCTTGGCTCCCC
NM_000339.2:c.2037+76_2037+77insCCTGTCTTGGCTCCCC	NP_000330.2:n.2037+76_2037+77insCCTGTCTTGGCTCCCC
NM_001126107.1:c.2034+76_2034+77insCCTGTCTTGGCTCCCC	NP_001119579.1:n.2034+76_2034+77insCCTGTCTTGGCTCCCC
NM_001126108.1:c.2037+76_2037+77insCCTGTCTTGGCTCCCC	NP_001119580.1:n.2037+76_2037+77insCCTGTCTTGGCTCCCC
XM_005256119.1:c.2034+76_2034+77insCCTGTCTTGGCTCCCC	XP_005256176.1:n.2034+76_2034+77insCCTGTCTTGGCTCCCC
XM_005256119.2:c.2034+76_2034+77insCCTGTCTTGGCTCCCC	XP_005256176.1:n.2034+76_2034+77insCCTGTCTTGGCTCCCC
NM_000339.3:c.2037+76_2037+77insCCTGTCTTGGCTCCCC	NP_000330.3:n.2037+76_2037+77insCCTGTCTTGGCTCCCC
NM_001126107.2:c.2034+76_2034+77insCCTGTCTTGGCTCCCC	NP_001119579.2:n.2034+76_2034+77insCCTGTCTTGGCTCCCC
NM_001126108.2:c.2037+76_2037+77insCCTGTCTTGGCTCCCC MANE Select	NP_001119580.2:n.2037+76_2037+77insCCTGTCTTGGCTCCCC