Canonical Allele Identifier: CA2765046177
Gene: SLC6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414497_1414498insAGAGAAGGCGCT , CM000667.2:g.1414497_1414498insAGAGAAGGCGCT GRCh38
NC_000005.9:g.1414612_1414613insAGAGAAGGCGCT , CM000667.1:g.1414612_1414613insAGAGAAGGCGCT GRCh37
NC_000005.8:g.1467612_1467613insAGAGAAGGCGCT NCBI36
NG_015885.1:g.35931_35932insAGCGCCTTCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+193_1156+194insAGCGCCTTCTCT MANE Select ENSP00000270349.9:n.1156+193_1156+194insAGCGCCTTCTCT
ENST00000270349.11:c.1156+193_1156+194insAGCGCCTTCTCT ENSP00000270349.9:n.1156+193_1156+194insAGCGCCTTCTCT
NM_001044.4:c.1156+193_1156+194insAGCGCCTTCTCT NP_001035.1:n.1156+193_1156+194insAGCGCCTTCTCT
NM_001044.5:c.1156+193_1156+194insAGCGCCTTCTCT MANE Select NP_001035.1:n.1156+193_1156+194insAGCGCCTTCTCT