Canonical Allele Identifier: CA1587311448

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647143_141647144delinsTC , CM000667.2:g.141647143_141647144delinsTC	GRCh38
NC_000005.9:g.141026710_141026711delinsTC , CM000667.1:g.141026710_141026711delinsTC	GRCh37
NC_000005.8:g.141006894_141006895delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.915_916delinsGA MANE Select	ENSP00000399259.2:p.Gly305=
ENST00000435817.6:c.915_916delinsGA	ENSP00000399259.2:p.Gly305=
ENST00000522126.5:c.687_688delinsGA	ENSP00000427796.1:p.Gly229=
ENST00000522386.1:n.521_522delinsGA
ENST00000522763.5:n.219_220delinsGA
ENST00000522783.5:c.909_910delinsGA	ENSP00000428677.1:p.Gly303=
ENST00000523856.5:n.173_174delinsGA
NM_033449.2:c.915_916delinsGA	NP_258260.1:p.Gly305=
XM_005268524.3:c.909_910delinsGA	XP_005268581.1:p.Gly303=
XM_006714803.2:c.786_787delinsGA	XP_006714866.1:p.Gly262=
XM_011537698.1:c.915_916delinsGA	XP_011536000.1:p.Gly305=
XM_011537699.1:c.915_916delinsGA	XP_011536001.1:p.Gly305=
XM_011537700.1:c.915_916delinsGA	XP_011536002.1:p.Gly305=
XM_011537701.1:c.915_916delinsGA	XP_011536003.1:p.Gly305=
XR_427781.2:n.969_970delinsGA
XR_944338.1:n.975_976delinsGA
XR_944339.1:n.975_976delinsGA
XM_005268524.5:c.909_910delinsGA	XP_005268581.1:p.Gly303=
XM_006714803.4:c.786_787delinsGA	XP_006714866.1:p.Gly262=
XM_011537698.3:c.915_916delinsGA	XP_011536000.1:p.Gly305=
XM_011537700.3:c.915_916delinsGA	XP_011536002.1:p.Gly305=
XM_011537701.3:c.915_916delinsGA	XP_011536003.1:p.Gly305=
XM_017010013.2:c.915_916delinsGA	XP_016865502.1:p.Gly305=
XR_002956197.1:n.911_912delinsGA
XR_427781.4:n.911_912delinsGA
XR_944338.3:n.990_991delinsGA
XR_944339.3:n.990_991delinsGA
NM_033449.3:c.915_916delinsGA MANE Select	NP_258260.1:p.Gly305=