Canonical Allele Identifier: CA563373441

Gene: FCHSD1

Linked Data

• dbSNP Id: rs1447102890
• gnomAD v2: 5-141027037-CAG-C
• gnomAD v4: 5-141647470-CAG-C
• MyVariant Identifiers: chr5:g.141027038_141027039del (hg19) ; chr5:g.141647471_141647472del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647471_141647472del , CM000667.2:g.141647471_141647472del	GRCh38
NC_000005.9:g.141027038_141027039del , CM000667.1:g.141027038_141027039del	GRCh37
NC_000005.8:g.141007222_141007223del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.754_755del MANE Select	ENSP00000399259.2:p.Leu252GlufsTer4
ENST00000435817.6:c.754_755del	ENSP00000399259.2:p.Leu252GlufsTer4
ENST00000522126.5:c.526_527del	ENSP00000427796.1:p.Leu176GlufsTer4
ENST00000522386.1:n.360_361del
ENST00000522763.5:n.58_59del
ENST00000522783.5:c.748_749del	ENSP00000428677.1:p.Leu250GlufsTer4
ENST00000523856.5:n.12_13del
NM_033449.2:c.754_755del	NP_258260.1:p.Leu252GlufsTer4
XM_005268524.3:c.748_749del	XP_005268581.1:p.Leu250GlufsTer4
XM_006714803.2:c.625_626del	XP_006714866.1:p.Leu209GlufsTer4
XM_011537698.1:c.754_755del	XP_011536000.1:p.Leu252GlufsTer4
XM_011537699.1:c.754_755del	XP_011536001.1:p.Leu252GlufsTer4
XM_011537700.1:c.754_755del	XP_011536002.1:p.Leu252GlufsTer4
XM_011537701.1:c.754_755del	XP_011536003.1:p.Leu252GlufsTer4
XR_427781.2:n.808_809del
XR_944338.1:n.814_815del
XR_944339.1:n.814_815del
XM_005268524.5:c.748_749del	XP_005268581.1:p.Leu250GlufsTer4
XM_006714803.4:c.625_626del	XP_006714866.1:p.Leu209GlufsTer4
XM_011537698.3:c.754_755del	XP_011536000.1:p.Leu252GlufsTer4
XM_011537700.3:c.754_755del	XP_011536002.1:p.Leu252GlufsTer4
XM_011537701.3:c.754_755del	XP_011536003.1:p.Leu252GlufsTer4
XM_017010013.2:c.754_755del	XP_016865502.1:p.Leu252GlufsTer4
XR_002956197.1:n.750_751del
XR_427781.4:n.750_751del
XR_944338.3:n.829_830del
XR_944339.3:n.829_830del
NM_033449.3:c.754_755del MANE Select	NP_258260.1:p.Leu252GlufsTer4