Canonical Allele Identifier: CA622333971

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1567427254
• gnomAD v2: 16-56904128-C-CCGTG
• gnomAD v4: 16-56870216-C-CCGTG
• MyVariant Identifiers: chr16:g.56904128_56904129insCGTG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870219_56870222dup , CM000678.2:g.56870219_56870222dup	GRCh38
NC_000016.9:g.56904131_56904134dup , CM000678.1:g.56904131_56904134dup	GRCh37
NC_000016.8:g.55461632_55461635dup	NCBI36
NG_009386.1:g.10013_10016dup
NG_009386.2:g.10013_10016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.725_728dup MANE Select	ENSP00000456149.2:p.Asp244AlafsTer16
ENST00000262502.5:c.722_725dup	ENSP00000262502.5:p.Asp243AlafsTer16
ENST00000438926.6:c.725_728dup	ENSP00000402152.2:p.Asp244AlafsTer16
ENST00000563236.5:c.725_728dup	ENSP00000456149.1:p.Asp244AlafsTer16
ENST00000566786.5:c.722_725dup	ENSP00000457552.1:p.Asp243AlafsTer16
NM_000339.2:c.725_728dup	NP_000330.2:p.Asp244AlafsTer16
NM_001126107.1:c.722_725dup	NP_001119579.1:p.Asp243AlafsTer16
NM_001126108.1:c.725_728dup	NP_001119580.1:p.Asp244AlafsTer16
XM_005256119.1:c.722_725dup	XP_005256176.1:p.Asp243AlafsTer16
XM_005256119.2:c.722_725dup	XP_005256176.1:p.Asp243AlafsTer16
NM_000339.3:c.725_728dup	NP_000330.3:p.Asp244AlafsTer16
NM_001126107.2:c.722_725dup	NP_001119579.2:p.Asp243AlafsTer16
NM_001126108.2:c.725_728dup MANE Select	NP_001119580.2:p.Asp244AlafsTer16