Canonical Allele Identifier: CA1072527138

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414498-G-GGGAGGGGCAGGGGA
• gnomAD v4: 5-1414498-G-GGGAGGGGCAGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414500_1414501insAGGGGCAGGGGAGG , CM000667.2:g.1414500_1414501insAGGGGCAGGGGAGG	GRCh38
NC_000005.9:g.1414615_1414616insAGGGGCAGGGGAGG , CM000667.1:g.1414615_1414616insAGGGGCAGGGGAGG	GRCh37
NC_000005.8:g.1467615_1467616insAGGGGCAGGGGAGG	NCBI36
NG_015885.1:g.35930_35931insTCCCCTGCCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+192_1156+193insTCCCCTGCCCCTCC MANE Select	ENSP00000270349.9:n.1156+192_1156+193insTCCCCTGCCCCTCC
ENST00000270349.11:c.1156+192_1156+193insTCCCCTGCCCCTCC	ENSP00000270349.9:n.1156+192_1156+193insTCCCCTGCCCCTCC
NM_001044.4:c.1156+192_1156+193insTCCCCTGCCCCTCC	NP_001035.1:n.1156+192_1156+193insTCCCCTGCCCCTCC
NM_001044.5:c.1156+192_1156+193insTCCCCTGCCCCTCC MANE Select	NP_001035.1:n.1156+192_1156+193insTCCCCTGCCCCTCC