Canonical Allele Identifier: CA2675704007

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647217-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647218dup , CM000667.2:g.141647218dup	GRCh38
NC_000005.9:g.141026785dup , CM000667.1:g.141026785dup	GRCh37
NC_000005.8:g.141006969dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435817.7:c.841dup MANE Select	ENSP00000399259.2:p.Gln281ProfsTer27
ENST00000435817.6:c.841dup	ENSP00000399259.2:p.Gln281ProfsTer27
ENST00000522126.5:c.613dup	ENSP00000427796.1:p.Gln205ProfsTer27
ENST00000522386.1:n.447dup
ENST00000522763.5:n.145dup
ENST00000522783.5:c.835dup	ENSP00000428677.1:p.Gln279ProfsTer27
ENST00000523856.5:n.99dup
NM_033449.2:c.841dup	NP_258260.1:p.Gln281ProfsTer27
XM_005268524.3:c.835dup	XP_005268581.1:p.Gln279ProfsTer27
XM_006714803.2:c.712dup	XP_006714866.1:p.Gln238ProfsTer27
XM_011537698.1:c.841dup	XP_011536000.1:p.Gln281ProfsTer27
XM_011537699.1:c.841dup	XP_011536001.1:p.Gln281ProfsTer27
XM_011537700.1:c.841dup	XP_011536002.1:p.Gln281ProfsTer27
XM_011537701.1:c.841dup	XP_011536003.1:p.Gln281ProfsTer27
XR_427781.2:n.895dup
XR_944338.1:n.901dup
XR_944339.1:n.901dup
XM_005268524.5:c.835dup	XP_005268581.1:p.Gln279ProfsTer27
XM_006714803.4:c.712dup	XP_006714866.1:p.Gln238ProfsTer27
XM_011537698.3:c.841dup	XP_011536000.1:p.Gln281ProfsTer27
XM_011537700.3:c.841dup	XP_011536002.1:p.Gln281ProfsTer27
XM_011537701.3:c.841dup	XP_011536003.1:p.Gln281ProfsTer27
XM_017010013.2:c.841dup	XP_016865502.1:p.Gln281ProfsTer27
XR_002956197.1:n.837dup
XR_427781.4:n.837dup
XR_944338.3:n.916dup
XR_944339.3:n.916dup
NM_033449.3:c.841dup MANE Select	NP_258260.1:p.Gln281ProfsTer27