Canonical Allele Identifier: CA1072526079

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560913028
• gnomAD v3: 5-1414490-G-GGCAGGGCGGAGAAGGCGC
• gnomAD v4: 5-1414490-G-GGCAGGGCGGAGAAGGCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCGGAGAAGGCGC , CM000667.2:g.1414490_1414491insGCAGGGCGGAGAAGGCGC	GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCGGAGAAGGCGC , CM000667.1:g.1414605_1414606insGCAGGGCGGAGAAGGCGC	GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCGGAGAAGGCGC	NCBI36
NG_015885.1:g.35938_35939insGCGCCTTCTCCGCCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+200_1156+201insGCGCCTTCTCCGCCCTGC MANE Select	ENSP00000270349.9:n.1156+200_1156+201insGCGCCTTCTCCGCCCTGC
ENST00000270349.11:c.1156+200_1156+201insGCGCCTTCTCCGCCCTGC	ENSP00000270349.9:n.1156+200_1156+201insGCGCCTTCTCCGCCCTGC
NM_001044.4:c.1156+200_1156+201insGCGCCTTCTCCGCCCTGC	NP_001035.1:n.1156+200_1156+201insGCGCCTTCTCCGCCCTGC
NM_001044.5:c.1156+200_1156+201insGCGCCTTCTCCGCCCTGC MANE Select	NP_001035.1:n.1156+200_1156+201insGCGCCTTCTCCGCCCTGC