Canonical Allele Identifier: CA2675704341

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647423-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647426del , CM000667.2:g.141647426del	GRCh38
NC_000005.9:g.141026993del , CM000667.1:g.141026993del	GRCh37
NC_000005.8:g.141007177del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.802del MANE Select	ENSP00000399259.2:p.His268ThrfsTer10
ENST00000435817.6:c.802del	ENSP00000399259.2:p.His268ThrfsTer10
ENST00000522126.5:c.574del	ENSP00000427796.1:p.His192ThrfsTer10
ENST00000522386.1:n.408del
ENST00000522763.5:n.106del
ENST00000522783.5:c.796del	ENSP00000428677.1:p.His266ThrfsTer10
ENST00000523856.5:n.60del
NM_033449.2:c.802del	NP_258260.1:p.His268ThrfsTer10
XM_005268524.3:c.796del	XP_005268581.1:p.His266ThrfsTer10
XM_006714803.2:c.673del	XP_006714866.1:p.His225ThrfsTer10
XM_011537698.1:c.802del	XP_011536000.1:p.His268ThrfsTer10
XM_011537699.1:c.802del	XP_011536001.1:p.His268ThrfsTer10
XM_011537700.1:c.802del	XP_011536002.1:p.His268ThrfsTer10
XM_011537701.1:c.802del	XP_011536003.1:p.His268ThrfsTer10
XR_427781.2:n.856del
XR_944338.1:n.862del
XR_944339.1:n.862del
XM_005268524.5:c.796del	XP_005268581.1:p.His266ThrfsTer10
XM_006714803.4:c.673del	XP_006714866.1:p.His225ThrfsTer10
XM_011537698.3:c.802del	XP_011536000.1:p.His268ThrfsTer10
XM_011537700.3:c.802del	XP_011536002.1:p.His268ThrfsTer10
XM_011537701.3:c.802del	XP_011536003.1:p.His268ThrfsTer10
XM_017010013.2:c.802del	XP_016865502.1:p.His268ThrfsTer10
XR_002956197.1:n.798del
XR_427781.4:n.798del
XR_944338.3:n.877del
XR_944339.3:n.877del
NM_033449.3:c.802del MANE Select	NP_258260.1:p.His268ThrfsTer10