Canonical Allele Identifier: CA1072527683

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414522-G-GGCGGGGAAGGC
• gnomAD v4: 5-1414522-G-GGCGGGGAAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414522_1414523insGCGGGGAAGGC , CM000667.2:g.1414522_1414523insGCGGGGAAGGC	GRCh38
NC_000005.9:g.1414637_1414638insGCGGGGAAGGC , CM000667.1:g.1414637_1414638insGCGGGGAAGGC	GRCh37
NC_000005.8:g.1467637_1467638insGCGGGGAAGGC	NCBI36
NG_015885.1:g.35906_35907insGCCTTCCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+168_1156+169insGCCTTCCCCGC MANE Select	ENSP00000270349.9:n.1156+168_1156+169insGCCTTCCCCGC
ENST00000270349.11:c.1156+168_1156+169insGCCTTCCCCGC	ENSP00000270349.9:n.1156+168_1156+169insGCCTTCCCCGC
NM_001044.4:c.1156+168_1156+169insGCCTTCCCCGC	NP_001035.1:n.1156+168_1156+169insGCCTTCCCCGC
NM_001044.5:c.1156+168_1156+169insGCCTTCCCCGC MANE Select	NP_001035.1:n.1156+168_1156+169insGCCTTCCCCGC