Canonical Allele Identifier: CA2675704126

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647294-ACTTCTTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647295_141647302del , CM000667.2:g.141647295_141647302del	GRCh38
NC_000005.9:g.141026862_141026869del , CM000667.1:g.141026862_141026869del	GRCh37
NC_000005.8:g.141007046_141007053del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.829-72_829-65del MANE Select	ENSP00000399259.2:n.829-72_829-65del
ENST00000435817.6:c.829-72_829-65del	ENSP00000399259.2:n.829-72_829-65del
ENST00000522126.5:c.601-72_601-65del	ENSP00000427796.1:n.601-72_601-65del
ENST00000522386.1:n.435-72_435-65del
ENST00000522763.5:n.133-72_133-65del
ENST00000522783.5:c.823-72_823-65del	ENSP00000428677.1:n.823-72_823-65del
ENST00000523856.5:n.87-72_87-65del
NM_033449.2:c.829-72_829-65del	NP_258260.1:n.829-72_829-65del
XM_005268524.3:c.823-72_823-65del	XP_005268581.1:n.823-72_823-65del
XM_006714803.2:c.700-72_700-65del	XP_006714866.1:n.700-72_700-65del
XM_011537698.1:c.829-72_829-65del	XP_011536000.1:n.829-72_829-65del
XM_011537699.1:c.829-72_829-65del	XP_011536001.1:n.829-72_829-65del
XM_011537700.1:c.829-72_829-65del	XP_011536002.1:n.829-72_829-65del
XM_011537701.1:c.829-72_829-65del	XP_011536003.1:n.829-72_829-65del
XR_427781.2:n.883-72_883-65del
XR_944338.1:n.889-72_889-65del
XR_944339.1:n.889-72_889-65del
XM_005268524.5:c.823-72_823-65del	XP_005268581.1:n.823-72_823-65del
XM_006714803.4:c.700-72_700-65del	XP_006714866.1:n.700-72_700-65del
XM_011537698.3:c.829-72_829-65del	XP_011536000.1:n.829-72_829-65del
XM_011537700.3:c.829-72_829-65del	XP_011536002.1:n.829-72_829-65del
XM_011537701.3:c.829-72_829-65del	XP_011536003.1:n.829-72_829-65del
XM_017010013.2:c.829-72_829-65del	XP_016865502.1:n.829-72_829-65del
XR_002956197.1:n.825-72_825-65del
XR_427781.4:n.825-72_825-65del
XR_944338.3:n.904-72_904-65del
XR_944339.3:n.904-72_904-65del
NM_033449.3:c.829-72_829-65del MANE Select	NP_258260.1:n.829-72_829-65del