Canonical Allele Identifier: CA1587312109

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647480_141647481delinsAG , CM000667.2:g.141647480_141647481delinsAG	GRCh38
NC_000005.9:g.141027047_141027048delinsAG , CM000667.1:g.141027047_141027048delinsAG	GRCh37
NC_000005.8:g.141007231_141007232delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.745_746delinsCT MANE Select	ENSP00000399259.2:p.Leu249=
ENST00000435817.6:c.745_746delinsCT	ENSP00000399259.2:p.Leu249=
ENST00000522126.5:c.517_518delinsCT	ENSP00000427796.1:p.Leu173=
ENST00000522386.1:n.351_352delinsCT
ENST00000522763.5:n.49_50delinsCT
ENST00000522783.5:c.739_740delinsCT	ENSP00000428677.1:p.Leu247=
ENST00000523856.5:n.3_4delinsCT
NM_033449.2:c.745_746delinsCT	NP_258260.1:p.Leu249=
XM_005268524.3:c.739_740delinsCT	XP_005268581.1:p.Leu247=
XM_006714803.2:c.616_617delinsCT	XP_006714866.1:p.Leu206=
XM_011537698.1:c.745_746delinsCT	XP_011536000.1:p.Leu249=
XM_011537699.1:c.745_746delinsCT	XP_011536001.1:p.Leu249=
XM_011537700.1:c.745_746delinsCT	XP_011536002.1:p.Leu249=
XM_011537701.1:c.745_746delinsCT	XP_011536003.1:p.Leu249=
XR_427781.2:n.799_800delinsCT
XR_944338.1:n.805_806delinsCT
XR_944339.1:n.805_806delinsCT
XM_005268524.5:c.739_740delinsCT	XP_005268581.1:p.Leu247=
XM_006714803.4:c.616_617delinsCT	XP_006714866.1:p.Leu206=
XM_011537698.3:c.745_746delinsCT	XP_011536000.1:p.Leu249=
XM_011537700.3:c.745_746delinsCT	XP_011536002.1:p.Leu249=
XM_011537701.3:c.745_746delinsCT	XP_011536003.1:p.Leu249=
XM_017010013.2:c.745_746delinsCT	XP_016865502.1:p.Leu249=
XR_002956197.1:n.741_742delinsCT
XR_427781.4:n.741_742delinsCT
XR_944338.3:n.820_821delinsCT
XR_944339.3:n.820_821delinsCT
NM_033449.3:c.745_746delinsCT MANE Select	NP_258260.1:p.Leu249=