Canonical Allele Identifier: CA625444363

Gene: SLC6A4

Linked Data

• dbSNP Id: rs1256843054
• gnomAD v2: 17-28548580-CGGGTCACAGCCCACCCT-C
• gnomAD v3: 17-30221562-CGGGTCACAGCCCACCCT-C
• gnomAD v4: 17-30221562-CGGGTCACAGCCCACCCT-C
• MyVariant Identifiers: chr17:g.28548581_28548597del (hg19) ; chr17:g.30221563_30221579del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30221574_30221590del , CM000679.2:g.30221574_30221590del	GRCh38
NC_000017.10:g.28548592_28548608del , CM000679.1:g.28548592_28548608del	GRCh37
NC_000017.9:g.25572718_25572734del	NCBI36
NG_011747.2:g.19358_19374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650711.1:c.343+37_343+53del MANE Select	ENSP00000498537.1:n.343+37_343+53del
ENST00000261707.7:c.343+37_343+53del	ENSP00000261707.3:n.343+37_343+53del
ENST00000394821.2:c.343+37_343+53del	ENSP00000378298.2:n.343+37_343+53del
ENST00000401766.6:c.343+37_343+53del	ENSP00000385822.2:n.343+37_343+53del
NM_001045.5:c.343+37_343+53del	NP_001036.1:n.343+37_343+53del
NM_001045.6:c.343+37_343+53del MANE Select	NP_001036.1:n.343+37_343+53del