Canonical Allele Identifier: CA563373447

Gene: FCHSD1

Linked Data

• dbSNP Id: rs1425377718
• gnomAD v2: 5-141027047-AG-A
• gnomAD v4: 5-141647480-AG-A
• MyVariant Identifiers: chr5:g.141027048del (hg19) ; chr5:g.141647481del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647485del , CM000667.2:g.141647485del	GRCh38
NC_000005.9:g.141027052del , CM000667.1:g.141027052del	GRCh37
NC_000005.8:g.141007236del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.745del MANE Select	ENSP00000399259.2:p.Leu249Ter
ENST00000435817.6:c.745del	ENSP00000399259.2:p.Leu249Ter
ENST00000522126.5:c.517del	ENSP00000427796.1:p.Leu173Ter
ENST00000522386.1:n.351del
ENST00000522763.5:n.49del
ENST00000522783.5:c.739del	ENSP00000428677.1:p.Leu247Ter
NM_033449.2:c.745del	NP_258260.1:p.Leu249Ter
XM_005268524.3:c.739del	XP_005268581.1:p.Leu247Ter
XM_006714803.2:c.616del	XP_006714866.1:p.Leu206Ter
XM_011537698.1:c.745del	XP_011536000.1:p.Leu249Ter
XM_011537699.1:c.745del	XP_011536001.1:p.Leu249Ter
XM_011537700.1:c.745del	XP_011536002.1:p.Leu249Ter
XM_011537701.1:c.745del	XP_011536003.1:p.Leu249Ter
XR_427781.2:n.799del
XR_944338.1:n.805del
XR_944339.1:n.805del
XM_005268524.5:c.739del	XP_005268581.1:p.Leu247Ter
XM_006714803.4:c.616del	XP_006714866.1:p.Leu206Ter
XM_011537698.3:c.745del	XP_011536000.1:p.Leu249Ter
XM_011537700.3:c.745del	XP_011536002.1:p.Leu249Ter
XM_011537701.3:c.745del	XP_011536003.1:p.Leu249Ter
XM_017010013.2:c.745del	XP_016865502.1:p.Leu249Ter
XR_002956197.1:n.741del
XR_427781.4:n.741del
XR_944338.3:n.820del
XR_944339.3:n.820del
NM_033449.3:c.745del MANE Select	NP_258260.1:p.Leu249Ter