Canonical Allele Identifier: CA2224349510
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56870589_56870590delinsAG , CM000678.2:g.56870589_56870590delinsAG GRCh38
NC_000016.9:g.56904501_56904502delinsAG , CM000678.1:g.56904501_56904502delinsAG GRCh37
NC_000016.8:g.55462002_55462003delinsAG NCBI36
NG_009386.1:g.10383_10384delinsAG
NG_009386.2:g.10383_10384delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.742-37_742-36delinsAG MANE Select ENSP00000456149.2:n.742-37_742-36delinsAG...
ENST00000262502.5:c.739-37_739-36delinsAG ENSP00000262502.5:n.739-37_739-36delinsAG...
ENST00000438926.6:c.742-37_742-36delinsAG ENSP00000402152.2:n.742-37_742-36delinsAG...
ENST00000563236.5:c.742-37_742-36delinsAG ENSP00000456149.1:n.742-37_742-36delinsAG...
ENST00000566786.5:c.739-37_739-36delinsAG ENSP00000457552.1:n.739-37_739-36delinsAG...
NM_000339.2:c.742-37_742-36delinsAG NP_000330.2:n.742-37_742-36delinsAG
NM_001126107.1:c.739-37_739-36delinsAG NP_001119579.1:n.739-37_739-36delinsAG
NM_001126108.1:c.742-37_742-36delinsAG NP_001119580.1:n.742-37_742-36delinsAG
XM_005256119.1:c.739-37_739-36delinsAG XP_005256176.1:n.739-37_739-36delinsAG
XM_005256119.2:c.739-37_739-36delinsAG XP_005256176.1:n.739-37_739-36delinsAG
NM_000339.3:c.742-37_742-36delinsAG NP_000330.3:n.742-37_742-36delinsAG
NM_001126107.2:c.739-37_739-36delinsAG NP_001119579.2:n.739-37_739-36delinsAG
NM_001126108.2:c.742-37_742-36delinsAG MANE Select NP_001119580.2:n.742-37_742-36delinsAG