Canonical Allele Identifier: CA2765045484
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411163_1411165del , CM000667.2:g.1411163_1411165del GRCh38
NC_000005.9:g.1411278_1411280del , CM000667.1:g.1411278_1411280del GRCh37
NC_000005.8:g.1464278_1464280del NCBI36
NG_015885.1:g.39264_39266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+78_1269+80del MANE Select ENSP00000270349.9:n.1269+78_1269+80del
ENST00000270349.11:c.1269+78_1269+80del ENSP00000270349.9:n.1269+78_1269+80del
NM_001044.4:c.1269+78_1269+80del NP_001035.1:n.1269+78_1269+80del
NM_001044.5:c.1269+78_1269+80del MANE Select NP_001035.1:n.1269+78_1269+80del