Canonical Allele Identifier: CA622337887

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1230085493
• gnomAD v2: 16-56918959-G-GTGAGCCACCGTGCCTGGCCT
• gnomAD v3: 16-56885047-G-GTGAGCCACCGTGCCTGGCCT
• gnomAD v4: 16-56885047-G-GTGAGCCACCGTGCCTGGCCT
• MyVariant Identifiers: chr16:g.56918959_56918960insTGAGCCACCGTGCCTGGCCT (hg19) ; chr16:g.56885047_56885048insTGAGCCACCGTGCCTGGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56885051_56885070dup , CM000678.2:g.56885051_56885070dup	GRCh38
NC_000016.9:g.56918963_56918982dup , CM000678.1:g.56918963_56918982dup	GRCh37
NC_000016.8:g.55476464_55476483dup	NCBI36
NG_009386.1:g.24845_24864dup
NG_009386.2:g.24845_24864dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1826-214_1826-195dup MANE Select	ENSP00000456149.2:n.1826-214_1826-195dup
ENST00000262502.5:c.1823-214_1823-195dup	ENSP00000262502.5:n.1823-214_1823-195dup
ENST00000438926.6:c.1826-214_1826-195dup	ENSP00000402152.2:n.1826-214_1826-195dup
ENST00000563236.5:c.1826-214_1826-195dup	ENSP00000456149.1:n.1826-214_1826-195dup
ENST00000566786.5:c.1823-214_1823-195dup	ENSP00000457552.1:n.1823-214_1823-195dup
NM_000339.2:c.1826-214_1826-195dup	NP_000330.2:n.1826-214_1826-195dup
NM_001126107.1:c.1823-214_1823-195dup	NP_001119579.1:n.1823-214_1823-195dup
NM_001126108.1:c.1826-214_1826-195dup	NP_001119580.1:n.1826-214_1826-195dup
XM_005256119.1:c.1823-214_1823-195dup	XP_005256176.1:n.1823-214_1823-195dup
XM_005256119.2:c.1823-214_1823-195dup	XP_005256176.1:n.1823-214_1823-195dup
NM_000339.3:c.1826-214_1826-195dup	NP_000330.3:n.1826-214_1826-195dup
NM_001126107.2:c.1823-214_1823-195dup	NP_001119579.2:n.1823-214_1823-195dup
NM_001126108.2:c.1826-214_1826-195dup MANE Select	NP_001119580.2:n.1826-214_1826-195dup