Canonical Allele Identifier: CA2633373046
Gene: SLC12A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56883971_56883972insGGGCACTGCTGGCATTACTTCC , CM000678.2:g.56883971_56883972insGGGCACTGCTGGCATTACTTCC GRCh38
NC_000016.9:g.56917883_56917884insGGGCACTGCTGGCATTACTTCC , CM000678.1:g.56917883_56917884insGGGCACTGCTGGCATTACTTCC GRCh37
NC_000016.8:g.55475384_55475385insGGGCACTGCTGGCATTACTTCC NCBI36
NG_009386.1:g.23765_23766insGGGCACTGCTGGCATTACTTCC
NG_009386.2:g.23765_23766insGGGCACTGCTGGCATTACTTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC MANE Select ENSP00000456149.2:n.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC
ENST00000262502.5:c.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC ENSP00000262502.5:n.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC
ENST00000438926.6:c.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC ENSP00000402152.2:n.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC
ENST00000563236.5:c.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC ENSP00000456149.1:n.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC
ENST00000566786.5:c.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC ENSP00000457552.1:n.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC
NM_000339.2:c.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC NP_000330.2:n.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC
NM_001126107.1:c.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC NP_001119579.1:n.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC
NM_001126108.1:c.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC NP_001119580.1:n.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC
XM_005256119.1:c.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC XP_005256176.1:n.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC
XM_005256119.2:c.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC XP_005256176.1:n.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC
NM_000339.3:c.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC NP_000330.3:n.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC
NM_001126107.2:c.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC NP_001119579.2:n.1667-78_1667-77insGGGCACTGCTGGCATTACTTCC
NM_001126108.2:c.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC MANE Select NP_001119580.2:n.1670-78_1670-77insGGGCACTGCTGGCATTACTTCC