Canonical Allele Identifier: CA2532467445
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56887799_56887800insATATATATATTTATTTTTT , CM000678.2:g.56887799_56887800insATATATATATTTATTTTTT GRCh38
NC_000016.9:g.56921711_56921712insATATATATATTTATTTTTT , CM000678.1:g.56921711_56921712insATATATATATTTATTTTTT GRCh37
NC_000016.8:g.55479212_55479213insATATATATATTTATTTTTT NCBI36
NG_009386.1:g.27593_27594insATATATATATTTATTTTTT
NG_009386.2:g.27593_27594insATATATATATTTATTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2179-126_2179-125insATATATATATTTATTTTTT MANE Select ENSP00000456149.2:n.2179-126_2179-125insATATATATATTTATTTTTT
ENST00000262502.5:c.2176-126_2176-125insATATATATATTTATTTTTT ENSP00000262502.5:n.2176-126_2176-125insATATATATATTTATTTTTT
ENST00000438926.6:c.2179-126_2179-125insATATATATATTTATTTTTT ENSP00000402152.2:n.2179-126_2179-125insATATATATATTTATTTTTT
ENST00000563236.5:c.2179-126_2179-125insATATATATATTTATTTTTT ENSP00000456149.1:n.2179-126_2179-125insATATATATATTTATTTTTT
ENST00000566786.5:c.2176-126_2176-125insATATATATATTTATTTTTT ENSP00000457552.1:n.2176-126_2176-125insATATATATATTTATTTTTT
NM_000339.2:c.2179-126_2179-125insATATATATATTTATTTTTT NP_000330.2:n.2179-126_2179-125insATATATATATTTATTTTTT
NM_001126107.1:c.2176-126_2176-125insATATATATATTTATTTTTT NP_001119579.1:n.2176-126_2176-125insATATATATATTTATTTTTT
NM_001126108.1:c.2179-126_2179-125insATATATATATTTATTTTTT NP_001119580.1:n.2179-126_2179-125insATATATATATTTATTTTTT
XM_005256119.1:c.2176-126_2176-125insATATATATATTTATTTTTT XP_005256176.1:n.2176-126_2176-125insATATATATATTTATTTTTT
XM_005256119.2:c.2176-126_2176-125insATATATATATTTATTTTTT XP_005256176.1:n.2176-126_2176-125insATATATATATTTATTTTTT
NM_000339.3:c.2179-126_2179-125insATATATATATTTATTTTTT NP_000330.3:n.2179-126_2179-125insATATATATATTTATTTTTT
NM_001126107.2:c.2176-126_2176-125insATATATATATTTATTTTTT NP_001119579.2:n.2176-126_2176-125insATATATATATTTATTTTTT
NM_001126108.2:c.2179-126_2179-125insATATATATATTTATTTTTT MANE Select NP_001119580.2:n.2179-126_2179-125insATATATATATTTATTTTTT