Canonical Allele Identifier: CA2578433888

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647463_141647472del , CM000667.2:g.141647463_141647472del	GRCh38
NC_000005.9:g.141027030_141027039del , CM000667.1:g.141027030_141027039del	GRCh37
NC_000005.8:g.141007214_141007223del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.760_769del MANE Select	ENSP00000399259.2:p.His254TrpfsTer21
ENST00000435817.6:c.760_769del	ENSP00000399259.2:p.His254TrpfsTer21
ENST00000522126.5:c.532_541del	ENSP00000427796.1:p.His178TrpfsTer21
ENST00000522386.1:n.366_375del
ENST00000522763.5:n.64_73del
ENST00000522783.5:c.754_763del	ENSP00000428677.1:p.His252TrpfsTer21
ENST00000523856.5:n.18_27del
NM_033449.2:c.760_769del	NP_258260.1:p.His254TrpfsTer21
XM_005268524.3:c.754_763del	XP_005268581.1:p.His252TrpfsTer21
XM_006714803.2:c.631_640del	XP_006714866.1:p.His211TrpfsTer21
XM_011537698.1:c.760_769del	XP_011536000.1:p.His254TrpfsTer21
XM_011537699.1:c.760_769del	XP_011536001.1:p.His254TrpfsTer21
XM_011537700.1:c.760_769del	XP_011536002.1:p.His254TrpfsTer21
XM_011537701.1:c.760_769del	XP_011536003.1:p.His254TrpfsTer21
XR_427781.2:n.814_823del
XR_944338.1:n.820_829del
XR_944339.1:n.820_829del
XM_005268524.5:c.754_763del	XP_005268581.1:p.His252TrpfsTer21
XM_006714803.4:c.631_640del	XP_006714866.1:p.His211TrpfsTer21
XM_011537698.3:c.760_769del	XP_011536000.1:p.His254TrpfsTer21
XM_011537700.3:c.760_769del	XP_011536002.1:p.His254TrpfsTer21
XM_011537701.3:c.760_769del	XP_011536003.1:p.His254TrpfsTer21
XM_017010013.2:c.760_769del	XP_016865502.1:p.His254TrpfsTer21
XR_002956197.1:n.756_765del
XR_427781.4:n.756_765del
XR_944338.3:n.835_844del
XR_944339.3:n.835_844del
NM_033449.3:c.760_769del MANE Select	NP_258260.1:p.His254TrpfsTer21