Canonical Allele Identifier: CA625444339
Gene: SLC6A4 HGNC NCBI

Linked Data

dbSNP Id: rs1428192993
gnomAD v2: 17-28548439-GCCCACCCCAGGTCACAGCCCACCCGGGTC-G
gnomAD v3: 17-30221421-GCCCACCCCAGGTCACAGCCCACCCGGGTC-G
gnomAD v4: 17-30221421-GCCCACCCCAGGTCACAGCCCACCCGGGTC-G
MyVariant Identifiers: chr17:g.28548440_28548468del (hg19) chr17:g.30221422_30221450del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30221422_30221450del , CM000679.2:g.30221422_30221450del GRCh38
NC_000017.10:g.28548440_28548468del , CM000679.1:g.28548440_28548468del GRCh37
NC_000017.9:g.25572566_25572594del NCBI36
NG_011747.2:g.19487_19515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650711.1:c.343+166_343+194del MANE Select ENSP00000498537.1:n.343+166_343+194del
ENST00000261707.7:c.343+166_343+194del ENSP00000261707.3:n.343+166_343+194del
ENST00000394821.2:c.343+166_343+194del ENSP00000378298.2:n.343+166_343+194del
ENST00000401766.6:c.343+166_343+194del ENSP00000385822.2:n.343+166_343+194del
NM_001045.5:c.343+166_343+194del NP_001036.1:n.343+166_343+194del
NM_001045.6:c.343+166_343+194del MANE Select NP_001036.1:n.343+166_343+194del
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