Canonical Allele Identifier: CA1587312107

Gene: FCHSD1

Linked Data

• dbSNP Id: rs2099907802

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647480del , CM000667.2:g.141647480del	GRCh38
NC_000005.9:g.141027047del , CM000667.1:g.141027047del	GRCh37
NC_000005.8:g.141007231del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.746del MANE Select	ENSP00000399259.2:p.Leu249ArgfsTer4
ENST00000435817.6:c.746del	ENSP00000399259.2:p.Leu249ArgfsTer4
ENST00000522126.5:c.518del	ENSP00000427796.1:p.Leu173ArgfsTer4
ENST00000522386.1:n.352del
ENST00000522763.5:n.50del
ENST00000522783.5:c.740del	ENSP00000428677.1:p.Leu247ArgfsTer4
ENST00000523856.5:n.4del
NM_033449.2:c.746del	NP_258260.1:p.Leu249ArgfsTer4
XM_005268524.3:c.740del	XP_005268581.1:p.Leu247ArgfsTer4
XM_006714803.2:c.617del	XP_006714866.1:p.Leu206ArgfsTer4
XM_011537698.1:c.746del	XP_011536000.1:p.Leu249ArgfsTer4
XM_011537699.1:c.746del	XP_011536001.1:p.Leu249ArgfsTer4
XM_011537700.1:c.746del	XP_011536002.1:p.Leu249ArgfsTer4
XM_011537701.1:c.746del	XP_011536003.1:p.Leu249ArgfsTer4
XR_427781.2:n.800del
XR_944338.1:n.806del
XR_944339.1:n.806del
XM_005268524.5:c.740del	XP_005268581.1:p.Leu247ArgfsTer4
XM_006714803.4:c.617del	XP_006714866.1:p.Leu206ArgfsTer4
XM_011537698.3:c.746del	XP_011536000.1:p.Leu249ArgfsTer4
XM_011537700.3:c.746del	XP_011536002.1:p.Leu249ArgfsTer4
XM_011537701.3:c.746del	XP_011536003.1:p.Leu249ArgfsTer4
XM_017010013.2:c.746del	XP_016865502.1:p.Leu249ArgfsTer4
XR_002956197.1:n.742del
XR_427781.4:n.742del
XR_944338.3:n.821del
XR_944339.3:n.821del
NM_033449.3:c.746del MANE Select	NP_258260.1:p.Leu249ArgfsTer4