Canonical Allele Identifier: CA557566020
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1358025962
gnomAD v2: 5-1414548-TGGGTGGGGGGCCGGGAGGGG-T
gnomAD v3: 5-1414433-TGGGTGGGGGGCCGGGAGGGG-T
gnomAD v4: 5-1414433-TGGGTGGGGGGCCGGGAGGGG-T
MyVariant Identifiers: chr5:g.1414549_1414568del (hg19) chr5:g.1414434_1414453del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414434_1414453del , CM000667.2:g.1414434_1414453del GRCh38
NC_000005.9:g.1414549_1414568del , CM000667.1:g.1414549_1414568del GRCh37
NC_000005.8:g.1467549_1467568del NCBI36
NG_015885.1:g.35976_35995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+238_1156+257del MANE Select ENSP00000270349.9:n.1156+238_1156+257del
ENST00000270349.11:c.1156+238_1156+257del ENSP00000270349.9:n.1156+238_1156+257del
NM_001044.4:c.1156+238_1156+257del NP_001035.1:n.1156+238_1156+257del
NM_001044.5:c.1156+238_1156+257del MANE Select NP_001035.1:n.1156+238_1156+257del
Search 100 bp 5'
Search 100 bp 3'