Canonical Allele Identifier: CA563373425

Gene: FCHSD1

Linked Data

• dbSNP Id: rs1299994005
• gnomAD v2: 5-141026994-C-CA
• MyVariant Identifiers: chr5:g.141026994_141026995insA (hg19) ; chr5:g.141647427_141647428insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647428dup , CM000667.2:g.141647428dup	GRCh38
NC_000005.9:g.141026995dup , CM000667.1:g.141026995dup	GRCh37
NC_000005.8:g.141007179dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.798dup MANE Select	ENSP00000399259.2:p.Ala267CysfsTer?
ENST00000435817.6:c.798dup	ENSP00000399259.2:p.Ala267CysfsTer?
ENST00000522126.5:c.570dup	ENSP00000427796.1:p.Ala191CysfsTer?
ENST00000522386.1:n.404dup
ENST00000522763.5:n.102dup
ENST00000522783.5:c.792dup	ENSP00000428677.1:p.Ala265CysfsTer?
ENST00000523856.5:n.56dup
NM_033449.2:c.798dup	NP_258260.1:p.Ala267CysfsTer?
XM_005268524.3:c.792dup	XP_005268581.1:p.Ala265CysfsTer?
XM_006714803.2:c.669dup	XP_006714866.1:p.Ala224CysfsTer?
XM_011537698.1:c.798dup	XP_011536000.1:p.Ala267CysfsTer?
XM_011537699.1:c.798dup	XP_011536001.1:p.Ala267CysfsTer?
XM_011537700.1:c.798dup	XP_011536002.1:p.Ala267CysfsTer?
XM_011537701.1:c.798dup	XP_011536003.1:p.Ala267CysfsTer?
XR_427781.2:n.852dup
XR_944338.1:n.858dup
XR_944339.1:n.858dup
XM_005268524.5:c.792dup	XP_005268581.1:p.Ala265CysfsTer?
XM_006714803.4:c.669dup	XP_006714866.1:p.Ala224CysfsTer?
XM_011537698.3:c.798dup	XP_011536000.1:p.Ala267CysfsTer?
XM_011537700.3:c.798dup	XP_011536002.1:p.Ala267CysfsTer?
XM_011537701.3:c.798dup	XP_011536003.1:p.Ala267CysfsTer?
XM_017010013.2:c.798dup	XP_016865502.1:p.Ala267CysfsTer?
XR_002956197.1:n.794dup
XR_427781.4:n.794dup
XR_944338.3:n.873dup
XR_944339.3:n.873dup
NM_033449.3:c.798dup MANE Select	NP_258260.1:p.Ala267CysfsTer?