Canonical Allele Identifier: CA557566098
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1161102996
gnomAD v2: 5-1414632-GGCA-G
gnomAD v3: 5-1414517-GGCA-G
gnomAD v4: 5-1414517-GGCA-G
MyVariant Identifiers: chr5:g.1414633_1414635del (hg19) chr5:g.1414518_1414520del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414519_1414521del , CM000667.2:g.1414519_1414521del GRCh38
NC_000005.9:g.1414634_1414636del , CM000667.1:g.1414634_1414636del GRCh37
NC_000005.8:g.1467634_1467636del NCBI36
NG_015885.1:g.35909_35911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+171_1156+173del MANE Select ENSP00000270349.9:n.1156+171_1156+173del
ENST00000270349.11:c.1156+171_1156+173del ENSP00000270349.9:n.1156+171_1156+173del
NM_001044.4:c.1156+171_1156+173del NP_001035.1:n.1156+171_1156+173del
NM_001044.5:c.1156+171_1156+173del MANE Select NP_001035.1:n.1156+171_1156+173del
Search 100 bp 5'
Search 100 bp 3'