Canonical Allele Identifier: CA2636978309

Gene: SLC6A4

Linked Data

• gnomAD v4: 17-30221497-G-GGTCACAGCCCATCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30221508_30221509insTCCCAAGTCACAGCCCA , CM000679.2:g.30221508_30221509insTCCCAAGTCACAGCCCA	GRCh38
NC_000017.10:g.28548526_28548527insTCCCAAGTCACAGCCCA , CM000679.1:g.28548526_28548527insTCCCAAGTCACAGCCCA	GRCh37
NC_000017.9:g.25572652_25572653insTCCCAAGTCACAGCCCA	NCBI36
NG_011747.2:g.19439_19440insTTGGGATGGGCTGTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650711.1:c.343+118_343+119insTTGGGATGGGCTGTGAC MANE Select	ENSP00000498537.1:n.343+118_343+119insTTGGGATGGGCTGTGAC
ENST00000261707.7:c.343+118_343+119insTTGGGATGGGCTGTGAC	ENSP00000261707.3:n.343+118_343+119insTTGGGATGGGCTGTGAC
ENST00000394821.2:c.343+118_343+119insTTGGGATGGGCTGTGAC	ENSP00000378298.2:n.343+118_343+119insTTGGGATGGGCTGTGAC
ENST00000401766.6:c.343+118_343+119insTTGGGATGGGCTGTGAC	ENSP00000385822.2:n.343+118_343+119insTTGGGATGGGCTGTGAC
NM_001045.5:c.343+118_343+119insTTGGGATGGGCTGTGAC	NP_001036.1:n.343+118_343+119insTTGGGATGGGCTGTGAC
NM_001045.6:c.343+118_343+119insTTGGGATGGGCTGTGAC MANE Select	NP_001036.1:n.343+118_343+119insTTGGGATGGGCTGTGAC