Canonical Allele Identifier: CA2675703699

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647000-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647002_141647003del , CM000667.2:g.141647002_141647003del	GRCh38
NC_000005.9:g.141026569_141026570del , CM000667.1:g.141026569_141026570del	GRCh37
NC_000005.8:g.141006753_141006754del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.924+133_924+134del MANE Select	ENSP00000399259.2:n.924+133_924+134del
ENST00000435817.6:c.924+133_924+134del	ENSP00000399259.2:n.924+133_924+134del
ENST00000522126.5:c.696+133_696+134del	ENSP00000427796.1:n.696+133_696+134del
ENST00000522386.1:n.530+133_530+134del
ENST00000522763.5:n.228+133_228+134del
ENST00000522783.5:c.918+133_918+134del	ENSP00000428677.1:n.918+133_918+134del
ENST00000523856.5:n.182+133_182+134del
NM_033449.2:c.924+133_924+134del	NP_258260.1:n.924+133_924+134del
XM_005268524.3:c.918+133_918+134del	XP_005268581.1:n.918+133_918+134del
XM_006714803.2:c.795+133_795+134del	XP_006714866.1:n.795+133_795+134del
XM_011537698.1:c.924+133_924+134del	XP_011536000.1:n.924+133_924+134del
XM_011537699.1:c.924+133_924+134del	XP_011536001.1:n.924+133_924+134del
XM_011537700.1:c.924+133_924+134del	XP_011536002.1:n.924+133_924+134del
XM_011537701.1:c.924+133_924+134del	XP_011536003.1:n.924+133_924+134del
XR_427781.2:n.978+133_978+134del
XR_944338.1:n.984+133_984+134del
XR_944339.1:n.984+133_984+134del
XM_005268524.5:c.918+133_918+134del	XP_005268581.1:n.918+133_918+134del
XM_006714803.4:c.795+133_795+134del	XP_006714866.1:n.795+133_795+134del
XM_011537698.3:c.924+133_924+134del	XP_011536000.1:n.924+133_924+134del
XM_011537700.3:c.924+133_924+134del	XP_011536002.1:n.924+133_924+134del
XM_011537701.3:c.924+133_924+134del	XP_011536003.1:n.924+133_924+134del
XM_017010013.2:c.924+133_924+134del	XP_016865502.1:n.924+133_924+134del
XR_002956197.1:n.920+133_920+134del
XR_427781.4:n.920+133_920+134del
XR_944338.3:n.999+133_999+134del
XR_944339.3:n.999+133_999+134del
NM_033449.3:c.924+133_924+134del MANE Select	NP_258260.1:n.924+133_924+134del