Canonical Allele Identifier: CA2765045674
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414404_1414405insCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGG , CM000667.2:g.1414404_1414405insCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGG GRCh38
NC_000005.9:g.1414519_1414520insCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGG , CM000667.1:g.1414519_1414520insCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGG GRCh37
NC_000005.8:g.1467519_1467520insCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGG NCBI36
NG_015885.1:g.36029_36030insACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCC MANE Select ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCT...
ENST00000270349.11:c.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCC ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCT...
NM_001044.4:c.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCC NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCTGCCCCT...
NM_001044.5:c.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCC MANE Select NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCTCTGCCCTGCCCCT...