Canonical Allele Identifier: CA2675704410

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647468-CTCAGGGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647475_141647483del , CM000667.2:g.141647475_141647483del	GRCh38
NC_000005.9:g.141027042_141027050del , CM000667.1:g.141027042_141027050del	GRCh37
NC_000005.8:g.141007226_141007234del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.749_757del MANE Select	ENSP00000399259.2:p.Thr250_Leu252del
ENST00000435817.6:c.749_757del	ENSP00000399259.2:p.Thr250_Leu252del
ENST00000522126.5:c.521_529del	ENSP00000427796.1:p.Thr174_Leu176del
ENST00000522386.1:n.355_363del
ENST00000522763.5:n.53_61del
ENST00000522783.5:c.743_751del	ENSP00000428677.1:p.Thr248_Leu250del
ENST00000523856.5:n.7_15del
NM_033449.2:c.749_757del	NP_258260.1:p.Thr250_Leu252del
XM_005268524.3:c.743_751del	XP_005268581.1:p.Thr248_Leu250del
XM_006714803.2:c.620_628del	XP_006714866.1:p.Thr207_Leu209del
XM_011537698.1:c.749_757del	XP_011536000.1:p.Thr250_Leu252del
XM_011537699.1:c.749_757del	XP_011536001.1:p.Thr250_Leu252del
XM_011537700.1:c.749_757del	XP_011536002.1:p.Thr250_Leu252del
XM_011537701.1:c.749_757del	XP_011536003.1:p.Thr250_Leu252del
XR_427781.2:n.803_811del
XR_944338.1:n.809_817del
XR_944339.1:n.809_817del
XM_005268524.5:c.743_751del	XP_005268581.1:p.Thr248_Leu250del
XM_006714803.4:c.620_628del	XP_006714866.1:p.Thr207_Leu209del
XM_011537698.3:c.749_757del	XP_011536000.1:p.Thr250_Leu252del
XM_011537700.3:c.749_757del	XP_011536002.1:p.Thr250_Leu252del
XM_011537701.3:c.749_757del	XP_011536003.1:p.Thr250_Leu252del
XM_017010013.2:c.749_757del	XP_016865502.1:p.Thr250_Leu252del
XR_002956197.1:n.745_753del
XR_427781.4:n.745_753del
XR_944338.3:n.824_832del
XR_944339.3:n.824_832del
NM_033449.3:c.749_757del MANE Select	NP_258260.1:p.Thr250_Leu252del