Canonical Allele Identifier: CA443018275
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1273838024
gnomAD v3: 5-1444464-GCA-G
gnomAD v4: 5-1444464-GCA-G
MyVariant Identifiers: chr5:g.1444580_1444581del (hg19) chr5:g.1444465_1444466del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444475_1444476del , CM000667.2:g.1444475_1444476del GRCh38
NC_000005.9:g.1444590_1444591del , CM000667.1:g.1444590_1444591del GRCh37
NC_000005.8:g.1497590_1497591del NCBI36
NG_015885.1:g.5963_5964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-46+882_-46+883del MANE Select ENSP00000270349.9:n.-46+882_-46+883del
ENST00000270349.11:c.-46+882_-46+883del ENSP00000270349.9:n.-46+882_-46+883del
NM_001044.4:c.-46+882_-46+883del NP_001035.1:n.-46+882_-46+883del
NM_001044.5:c.-46+882_-46+883del MANE Select NP_001035.1:n.-46+882_-46+883del
Search 100 bp 5'
Search 100 bp 3'