Canonical Allele Identifier: CA2765045653
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414354del , CM000667.2:g.1414354del GRCh38
NC_000005.9:g.1414469del , CM000667.1:g.1414469del GRCh37
NC_000005.8:g.1467469del NCBI36
NG_015885.1:g.36077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+339del MANE Select ENSP00000270349.9:n.1156+339del
ENST00000270349.11:c.1156+339del ENSP00000270349.9:n.1156+339del
NM_001044.4:c.1156+339del NP_001035.1:n.1156+339del
NM_001044.5:c.1156+339del MANE Select NP_001035.1:n.1156+339del