Canonical Allele Identifier: CA557566041

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560912937
• gnomAD v2: 5-1414574-CGGGG-C
• gnomAD v3: 5-1414459-CGGGG-C
• gnomAD v4: 5-1414459-CGGGG-C
• MyVariant Identifiers: chr5:g.1414575_1414578del (hg19) ; chr5:g.1414460_1414463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414460_1414463del , CM000667.2:g.1414460_1414463del	GRCh38
NC_000005.9:g.1414575_1414578del , CM000667.1:g.1414575_1414578del	GRCh37
NC_000005.8:g.1467575_1467578del	NCBI36
NG_015885.1:g.35966_35969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+228_1156+231del MANE Select	ENSP00000270349.9:n.1156+228_1156+231del
ENST00000270349.11:c.1156+228_1156+231del	ENSP00000270349.9:n.1156+228_1156+231del
NM_001044.4:c.1156+228_1156+231del	NP_001035.1:n.1156+228_1156+231del
NM_001044.5:c.1156+228_1156+231del MANE Select	NP_001035.1:n.1156+228_1156+231del