Canonical Allele Identifier: CA2224357243

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886477_56886489delinsTGAGTGGCCCCTG , CM000678.2:g.56886477_56886489delinsTGAGTGGCCCCTG	GRCh38
NC_000016.9:g.56920389_56920401delinsTGAGTGGCCCCTG , CM000678.1:g.56920389_56920401delinsTGAGTGGCCCCTG	GRCh37
NC_000016.8:g.55477890_55477902delinsTGAGTGGCCCCTG	NCBI36
NG_009386.1:g.26271_26283delinsTGAGTGGCCCCTG
NG_009386.2:g.26271_26283delinsTGAGTGGCCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2037+2_2037+14delinsTGAGTGGCCCCTG MANE Select	ENSP00000456149.2:n.2037+2_2037+14delinsTGAGTGGCCCCTG
ENST00000262502.5:c.2034+2_2034+14delinsTGAGTGGCCCCTG	ENSP00000262502.5:n.2034+2_2034+14delinsTGAGTGGCCCCTG
ENST00000438926.6:c.2037+2_2037+14delinsTGAGTGGCCCCTG	ENSP00000402152.2:n.2037+2_2037+14delinsTGAGTGGCCCCTG
ENST00000563236.5:c.2037+2_2037+14delinsTGAGTGGCCCCTG	ENSP00000456149.1:n.2037+2_2037+14delinsTGAGTGGCCCCTG
ENST00000566786.5:c.2034+2_2034+14delinsTGAGTGGCCCCTG	ENSP00000457552.1:n.2034+2_2034+14delinsTGAGTGGCCCCTG
NM_000339.2:c.2037+2_2037+14delinsTGAGTGGCCCCTG	NP_000330.2:n.2037+2_2037+14delinsTGAGTGGCCCCTG
NM_001126107.1:c.2034+2_2034+14delinsTGAGTGGCCCCTG	NP_001119579.1:n.2034+2_2034+14delinsTGAGTGGCCCCTG
NM_001126108.1:c.2037+2_2037+14delinsTGAGTGGCCCCTG	NP_001119580.1:n.2037+2_2037+14delinsTGAGTGGCCCCTG
XM_005256119.1:c.2034+2_2034+14delinsTGAGTGGCCCCTG	XP_005256176.1:n.2034+2_2034+14delinsTGAGTGGCCCCTG
XM_005256119.2:c.2034+2_2034+14delinsTGAGTGGCCCCTG	XP_005256176.1:n.2034+2_2034+14delinsTGAGTGGCCCCTG
NM_000339.3:c.2037+2_2037+14delinsTGAGTGGCCCCTG	NP_000330.3:n.2037+2_2037+14delinsTGAGTGGCCCCTG
NM_001126107.2:c.2034+2_2034+14delinsTGAGTGGCCCCTG	NP_001119579.2:n.2034+2_2034+14delinsTGAGTGGCCCCTG
NM_001126108.2:c.2037+2_2037+14delinsTGAGTGGCCCCTG MANE Select	NP_001119580.2:n.2037+2_2037+14delinsTGAGTGGCCCCTG