Canonical Allele Identifier: CA289284683

Gene: SLC6A4

Linked Data

• dbSNP Id: rs1027849307
• gnomAD v2: 17-28552131-GTCTC-G
• gnomAD v3: 17-30225113-GTCTC-G
• gnomAD v4: 17-30225113-GTCTC-G
• MyVariant Identifiers: chr17:g.28552132_28552135del (hg19) ; chr17:g.30225114_30225117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30225119_30225122del , CM000679.2:g.30225119_30225122del	GRCh38
NC_000017.10:g.28552137_28552140del , CM000679.1:g.28552137_28552140del	GRCh37
NC_000017.9:g.25576263_25576266del	NCBI36
NG_011747.2:g.15820_15823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650711.1:c.-220-2202_-220-2199del MANE Select	ENSP00000498537.1:n.-220-2202_-220-2199del
ENST00000261707.7:c.-220-2202_-220-2199del	ENSP00000261707.3:n.-220-2202_-220-2199del
ENST00000394821.2:c.-220-2202_-220-2199del	ENSP00000378298.2:n.-220-2202_-220-2199del
ENST00000401766.6:c.-123-3036_-123-3033del	ENSP00000385822.2:n.-123-3036_-123-3033del
NM_001045.5:c.-220-2202_-220-2199del	NP_001036.1:n.-220-2202_-220-2199del
NM_001045.6:c.-220-2202_-220-2199del MANE Select	NP_001036.1:n.-220-2202_-220-2199del