Canonical Allele Identifier: CA917596272

Gene: FCHSD1

Linked Data

• dbSNP Id: rs1562389918
• gnomAD v4: 5-141647143-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647146del , CM000667.2:g.141647146del	GRCh38
NC_000005.9:g.141026713del , CM000667.1:g.141026713del	GRCh37
NC_000005.8:g.141006897del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.915del MANE Select	ENSP00000399259.2:p.Thr306LeufsTer27
ENST00000435817.6:c.915del	ENSP00000399259.2:p.Thr306LeufsTer27
ENST00000522126.5:c.687del	ENSP00000427796.1:p.Thr230LeufsTer27
ENST00000522386.1:n.521del
ENST00000522763.5:n.219del
ENST00000522783.5:c.909del	ENSP00000428677.1:p.Thr304LeufsTer27
ENST00000523856.5:n.173del
NM_033449.2:c.915del	NP_258260.1:p.Thr306LeufsTer27
XM_005268524.3:c.909del	XP_005268581.1:p.Thr304LeufsTer27
XM_006714803.2:c.786del	XP_006714866.1:p.Thr263LeufsTer27
XM_011537698.1:c.915del	XP_011536000.1:p.Thr306LeufsTer27
XM_011537699.1:c.915del	XP_011536001.1:p.Thr306LeufsTer27
XM_011537700.1:c.915del	XP_011536002.1:p.Thr306LeufsTer27
XM_011537701.1:c.915del	XP_011536003.1:p.Thr306LeufsTer27
XR_427781.2:n.969del
XR_944338.1:n.975del
XR_944339.1:n.975del
XM_005268524.5:c.909del	XP_005268581.1:p.Thr304LeufsTer27
XM_006714803.4:c.786del	XP_006714866.1:p.Thr263LeufsTer27
XM_011537698.3:c.915del	XP_011536000.1:p.Thr306LeufsTer27
XM_011537700.3:c.915del	XP_011536002.1:p.Thr306LeufsTer27
XM_011537701.3:c.915del	XP_011536003.1:p.Thr306LeufsTer27
XM_017010013.2:c.915del	XP_016865502.1:p.Thr306LeufsTer27
XR_002956197.1:n.911del
XR_427781.4:n.911del
XR_944338.3:n.990del
XR_944339.3:n.990del
NM_033449.3:c.915del MANE Select	NP_258260.1:p.Thr306LeufsTer27