Canonical Allele Identifier: CA1072527651

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414516-G-GGGGCCGGGAGGGGCAGGGAAGGGAA
• gnomAD v4: 5-1414516-G-GGGGCCGGGAGGGGCAGGGAAGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGAAGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGAAGG	GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGAAGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGAAGG	GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGAAGGGAAGG	NCBI36
NG_015885.1:g.35912_35913insTTCCCTTCCCTGCCCCTCCCGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCGGCCC MANE Select	ENSP00000270349.9:n.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCG...
ENST00000270349.11:c.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCGGCCC	ENSP00000270349.9:n.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCG...
NM_001044.4:c.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCGGCCC	NP_001035.1:n.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCGGCCC
NM_001044.5:c.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCGGCCC MANE Select	NP_001035.1:n.1156+174_1156+175insTTCCCTTCCCTGCCCCTCCCGGCCC