Canonical Allele Identifier: CA917398558
Gene: SLC6A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411740_1411741insACATACACACTCAGACACACATACCATGCA , CM000667.2:g.1411740_1411741insACATACACACTCAGACACACATACCATGCA GRCh38
NC_000005.9:g.1411855_1411856insACATACACACTCAGACACACATACCATGCA , CM000667.1:g.1411855_1411856insACATACACACTCAGACACACATACCATGCA GRCh37
NC_000005.8:g.1464855_1464856insACATACACACTCAGACACACATACCATGCA NCBI36
NG_015885.1:g.38688_38689insTGCATGGTATGTGTGTCTGAGTGTGTATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1157-386_1157-385insTGCATGGTATGTGTGTCTGAGTGTGTATGT MANE Select ENSP00000270349.9:n.1157-386_1157-385insTGCATGGTATGTGTGTCTGAG...
ENST00000270349.11:c.1157-386_1157-385insTGCATGGTATGTGTGTCTGAGTGTGTATGT ENSP00000270349.9:n.1157-386_1157-385insTGCATGGTATGTGTGTCTGAG...
NM_001044.4:c.1157-386_1157-385insTGCATGGTATGTGTGTCTGAGTGTGTATGT NP_001035.1:n.1157-386_1157-385insTGCATGGTATGTGTGTCTGAGTGTGTA...
NM_001044.5:c.1157-386_1157-385insTGCATGGTATGTGTGTCTGAGTGTGTATGT MANE Select NP_001035.1:n.1157-386_1157-385insTGCATGGTATGTGTGTCTGAGTGTGTA...
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