Canonical Allele Identifier: CA1587312064

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647470_141647472delinsCAG , CM000667.2:g.141647470_141647472delinsCAG	GRCh38
NC_000005.9:g.141027037_141027039delinsCAG , CM000667.1:g.141027037_141027039delinsCAG	GRCh37
NC_000005.8:g.141007221_141007223delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.754_756delinsCTG MANE Select	ENSP00000399259.2:p.Leu252=
ENST00000435817.6:c.754_756delinsCTG	ENSP00000399259.2:p.Leu252=
ENST00000522126.5:c.526_528delinsCTG	ENSP00000427796.1:p.Leu176=
ENST00000522386.1:n.360_362delinsCTG
ENST00000522763.5:n.58_60delinsCTG
ENST00000522783.5:c.748_750delinsCTG	ENSP00000428677.1:p.Leu250=
ENST00000523856.5:n.12_14delinsCTG
NM_033449.2:c.754_756delinsCTG	NP_258260.1:p.Leu252=
XM_005268524.3:c.748_750delinsCTG	XP_005268581.1:p.Leu250=
XM_006714803.2:c.625_627delinsCTG	XP_006714866.1:p.Leu209=
XM_011537698.1:c.754_756delinsCTG	XP_011536000.1:p.Leu252=
XM_011537699.1:c.754_756delinsCTG	XP_011536001.1:p.Leu252=
XM_011537700.1:c.754_756delinsCTG	XP_011536002.1:p.Leu252=
XM_011537701.1:c.754_756delinsCTG	XP_011536003.1:p.Leu252=
XR_427781.2:n.808_810delinsCTG
XR_944338.1:n.814_816delinsCTG
XR_944339.1:n.814_816delinsCTG
XM_005268524.5:c.748_750delinsCTG	XP_005268581.1:p.Leu250=
XM_006714803.4:c.625_627delinsCTG	XP_006714866.1:p.Leu209=
XM_011537698.3:c.754_756delinsCTG	XP_011536000.1:p.Leu252=
XM_011537700.3:c.754_756delinsCTG	XP_011536002.1:p.Leu252=
XM_011537701.3:c.754_756delinsCTG	XP_011536003.1:p.Leu252=
XM_017010013.2:c.754_756delinsCTG	XP_016865502.1:p.Leu252=
XR_002956197.1:n.750_752delinsCTG
XR_427781.4:n.750_752delinsCTG
XR_944338.3:n.829_831delinsCTG
XR_944339.3:n.829_831delinsCTG
NM_033449.3:c.754_756delinsCTG MANE Select	NP_258260.1:p.Leu252=