Canonical Allele Identifier: CA557565991

Gene: SLC6A3

Linked Data

• gnomAD v2: 5-1414512-GTGGGGGGGCCTGGAGGGGCAGGGCGGA-G
• gnomAD v3: 5-1414397-GTGGGGGGGCCTGGAGGGGCAGGGCGGA-G
• gnomAD v4: 5-1414397-GTGGGGGGGCCTGGAGGGGCAGGGCGGA-G
• MyVariant Identifiers: chr5:g.1414513_1414539del (hg19) ; chr5:g.1414398_1414424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414398_1414424del , CM000667.2:g.1414398_1414424del	GRCh38
NC_000005.9:g.1414513_1414539del , CM000667.1:g.1414513_1414539del	GRCh37
NC_000005.8:g.1467513_1467539del	NCBI36
NG_015885.1:g.36005_36031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+267_1156+293del MANE Select	ENSP00000270349.9:n.1156+267_1156+293del
ENST00000270349.11:c.1156+267_1156+293del	ENSP00000270349.9:n.1156+267_1156+293del
NM_001044.4:c.1156+267_1156+293del	NP_001035.1:n.1156+267_1156+293del
NM_001044.5:c.1156+267_1156+293del MANE Select	NP_001035.1:n.1156+267_1156+293del