Canonical Allele Identifier: CA2707977685

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756226735

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCTGGAGGGT , CM000667.2:g.1414518_1414519insGCCTGGAGGGT	GRCh38
NC_000005.9:g.1414633_1414634insGCCTGGAGGGT , CM000667.1:g.1414633_1414634insGCCTGGAGGGT	GRCh37
NC_000005.8:g.1467633_1467634insGCCTGGAGGGT	NCBI36
NG_015885.1:g.35910_35911insACCCTCCAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+172_1156+173insACCCTCCAGGC MANE Select	ENSP00000270349.9:n.1156+172_1156+173insACCCTCCAGGC
ENST00000270349.11:c.1156+172_1156+173insACCCTCCAGGC	ENSP00000270349.9:n.1156+172_1156+173insACCCTCCAGGC
NM_001044.4:c.1156+172_1156+173insACCCTCCAGGC	NP_001035.1:n.1156+172_1156+173insACCCTCCAGGC
NM_001044.5:c.1156+172_1156+173insACCCTCCAGGC MANE Select	NP_001035.1:n.1156+172_1156+173insACCCTCCAGGC