Canonical Allele Identifier: CA1587312103

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647479_141647480delinsCA , CM000667.2:g.141647479_141647480delinsCA	GRCh38
NC_000005.9:g.141027046_141027047delinsCA , CM000667.1:g.141027046_141027047delinsCA	GRCh37
NC_000005.8:g.141007230_141007231delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.746_747delinsTG MANE Select	ENSP00000399259.2:p.Leu249=
ENST00000435817.6:c.746_747delinsTG	ENSP00000399259.2:p.Leu249=
ENST00000522126.5:c.518_519delinsTG	ENSP00000427796.1:p.Leu173=
ENST00000522386.1:n.352_353delinsTG
ENST00000522763.5:n.50_51delinsTG
ENST00000522783.5:c.740_741delinsTG	ENSP00000428677.1:p.Leu247=
ENST00000523856.5:n.4_5delinsTG
NM_033449.2:c.746_747delinsTG	NP_258260.1:p.Leu249=
XM_005268524.3:c.740_741delinsTG	XP_005268581.1:p.Leu247=
XM_006714803.2:c.617_618delinsTG	XP_006714866.1:p.Leu206=
XM_011537698.1:c.746_747delinsTG	XP_011536000.1:p.Leu249=
XM_011537699.1:c.746_747delinsTG	XP_011536001.1:p.Leu249=
XM_011537700.1:c.746_747delinsTG	XP_011536002.1:p.Leu249=
XM_011537701.1:c.746_747delinsTG	XP_011536003.1:p.Leu249=
XR_427781.2:n.800_801delinsTG
XR_944338.1:n.806_807delinsTG
XR_944339.1:n.806_807delinsTG
XM_005268524.5:c.740_741delinsTG	XP_005268581.1:p.Leu247=
XM_006714803.4:c.617_618delinsTG	XP_006714866.1:p.Leu206=
XM_011537698.3:c.746_747delinsTG	XP_011536000.1:p.Leu249=
XM_011537700.3:c.746_747delinsTG	XP_011536002.1:p.Leu249=
XM_011537701.3:c.746_747delinsTG	XP_011536003.1:p.Leu249=
XM_017010013.2:c.746_747delinsTG	XP_016865502.1:p.Leu249=
XR_002956197.1:n.742_743delinsTG
XR_427781.4:n.742_743delinsTG
XR_944338.3:n.821_822delinsTG
XR_944339.3:n.821_822delinsTG
NM_033449.3:c.746_747delinsTG MANE Select	NP_258260.1:p.Leu249=