Canonical Allele Identifier: CA557565990
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912773
gnomAD v2: 5-1414510-GGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA-G
gnomAD v3: 5-1414395-GGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA-G
gnomAD v4: 5-1414395-GGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA-G
MyVariant Identifiers: chr5:g.1414511_1414546del (hg19) chr5:g.1414396_1414431del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414396_1414431del , CM000667.2:g.1414396_1414431del GRCh38
NC_000005.9:g.1414511_1414546del , CM000667.1:g.1414511_1414546del GRCh37
NC_000005.8:g.1467511_1467546del NCBI36
NG_015885.1:g.35998_36033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+260_1156+295del MANE Select ENSP00000270349.9:n.1156+260_1156+295del
ENST00000270349.11:c.1156+260_1156+295del ENSP00000270349.9:n.1156+260_1156+295del
NM_001044.4:c.1156+260_1156+295del NP_001035.1:n.1156+260_1156+295del
NM_001044.5:c.1156+260_1156+295del MANE Select NP_001035.1:n.1156+260_1156+295del
Search 100 bp 5'
Search 100 bp 3'