Canonical Allele Identifier: CA2224349070
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56869725_56869736delinsGCAGTCCTGACC , CM000678.2:g.56869725_56869736delinsGCAGTCCTGACC GRCh38
NC_000016.9:g.56903637_56903648delinsGCAGTCCTGACC , CM000678.1:g.56903637_56903648delinsGCAGTCCTGACC GRCh37
NC_000016.8:g.55461138_55461149delinsGCAGTCCTGACC NCBI36
NG_009386.1:g.9519_9530delinsGCAGTCCTGACC
NG_009386.2:g.9519_9530delinsGCAGTCCTGACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.506-4_513delinsGCAGTCCTGACC
ENST00000262502.5:c.503-4_510delinsGCAGTCCTGACC
ENST00000438926.6:c.506-4_513delinsGCAGTCCTGACC
ENST00000563236.5:c.506-4_513delinsGCAGTCCTGACC
ENST00000566786.5:c.503-4_510delinsGCAGTCCTGACC
NM_000339.2:c.506-4_513delinsGCAGTCCTGACC
NM_001126107.1:c.503-4_510delinsGCAGTCCTGACC
NM_001126108.1:c.506-4_513delinsGCAGTCCTGACC
XM_005256119.1:c.503-4_510delinsGCAGTCCTGACC
XM_005256119.2:c.503-4_510delinsGCAGTCCTGACC
NM_000339.3:c.506-4_513delinsGCAGTCCTGACC
NM_001126107.2:c.503-4_510delinsGCAGTCCTGACC
NM_001126108.2:c.506-4_513delinsGCAGTCCTGACC