Canonical Allele Identifier: CA2765045681
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414410_1414526del , CM000667.2:g.1414410_1414526del GRCh38
NC_000005.9:g.1414525_1414641del , CM000667.1:g.1414525_1414641del GRCh37
NC_000005.8:g.1467525_1467641del NCBI36
NG_015885.1:g.35906_36022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+168_1156+284del MANE Select ENSP00000270349.9:n.1156+168_1156+284del
ENST00000270349.11:c.1156+168_1156+284del ENSP00000270349.9:n.1156+168_1156+284del
NM_001044.4:c.1156+168_1156+284del NP_001035.1:n.1156+168_1156+284del
NM_001044.5:c.1156+168_1156+284del MANE Select NP_001035.1:n.1156+168_1156+284del