Canonical Allele Identifier: CA625444343

Gene: SLC6A4

Linked Data

• dbSNP Id: rs1426314055
• gnomAD v2: 17-28548460-ACCC-A
• gnomAD v3: 17-30221442-ACCC-A
• gnomAD v4: 17-30221442-ACCC-A
• MyVariant Identifiers: chr17:g.28548461_28548463del (hg19) ; chr17:g.30221443_30221445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30221443_30221445del , CM000679.2:g.30221443_30221445del	GRCh38
NC_000017.10:g.28548461_28548463del , CM000679.1:g.28548461_28548463del	GRCh37
NC_000017.9:g.25572587_25572589del	NCBI36
NG_011747.2:g.19492_19494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650711.1:c.343+171_343+173del MANE Select	ENSP00000498537.1:n.343+171_343+173del
ENST00000261707.7:c.343+171_343+173del	ENSP00000261707.3:n.343+171_343+173del
ENST00000394821.2:c.343+171_343+173del	ENSP00000378298.2:n.343+171_343+173del
ENST00000401766.6:c.343+171_343+173del	ENSP00000385822.2:n.343+171_343+173del
NM_001045.5:c.343+171_343+173del	NP_001036.1:n.343+171_343+173del
NM_001045.6:c.343+171_343+173del MANE Select	NP_001036.1:n.343+171_343+173del