Canonical Allele Identifier: CA557566057
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v2: 5-1414591-GGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGT-G
gnomAD v3: 5-1414476-GGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGT-G
gnomAD v4: 5-1414476-GGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCGCTGGGT-G
MyVariant Identifiers: chr5:g.1414592_1414628del (hg19) chr5:g.1414477_1414513del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414519del , CM000667.2:g.1414483_1414519del GRCh38
NC_000005.9:g.1414598_1414634del , CM000667.1:g.1414598_1414634del GRCh37
NC_000005.8:g.1467598_1467634del NCBI36
NG_015885.1:g.35916_35952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+178_1156+214del MANE Select ENSP00000270349.9:n.1156+178_1156+214del
ENST00000270349.11:c.1156+178_1156+214del ENSP00000270349.9:n.1156+178_1156+214del
NM_001044.4:c.1156+178_1156+214del NP_001035.1:n.1156+178_1156+214del
NM_001044.5:c.1156+178_1156+214del MANE Select NP_001035.1:n.1156+178_1156+214del
Search 100 bp 5'
Search 100 bp 3'