Canonical Allele Identifier: CA2675704385

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647454-C-CACA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647454_141647455insACA , CM000667.2:g.141647454_141647455insACA	GRCh38
NC_000005.9:g.141027021_141027022insACA , CM000667.1:g.141027021_141027022insACA	GRCh37
NC_000005.8:g.141007205_141007206insACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.771_772insTGT MANE Select	ENSP00000399259.2:p.Leu257_Glu258insCys
ENST00000435817.6:c.771_772insTGT	ENSP00000399259.2:p.Leu257_Glu258insCys
ENST00000522126.5:c.543_544insTGT	ENSP00000427796.1:p.Leu181_Glu182insCys
ENST00000522386.1:n.377_378insTGT
ENST00000522763.5:n.75_76insTGT
ENST00000522783.5:c.765_766insTGT	ENSP00000428677.1:p.Leu255_Glu256insCys
ENST00000523856.5:n.29_30insTGT
NM_033449.2:c.771_772insTGT	NP_258260.1:p.Leu257_Glu258insCys
XM_005268524.3:c.765_766insTGT	XP_005268581.1:p.Leu255_Glu256insCys
XM_006714803.2:c.642_643insTGT	XP_006714866.1:p.Leu214_Glu215insCys
XM_011537698.1:c.771_772insTGT	XP_011536000.1:p.Leu257_Glu258insCys
XM_011537699.1:c.771_772insTGT	XP_011536001.1:p.Leu257_Glu258insCys
XM_011537700.1:c.771_772insTGT	XP_011536002.1:p.Leu257_Glu258insCys
XM_011537701.1:c.771_772insTGT	XP_011536003.1:p.Leu257_Glu258insCys
XR_427781.2:n.825_826insTGT
XR_944338.1:n.831_832insTGT
XR_944339.1:n.831_832insTGT
XM_005268524.5:c.765_766insTGT	XP_005268581.1:p.Leu255_Glu256insCys
XM_006714803.4:c.642_643insTGT	XP_006714866.1:p.Leu214_Glu215insCys
XM_011537698.3:c.771_772insTGT	XP_011536000.1:p.Leu257_Glu258insCys
XM_011537700.3:c.771_772insTGT	XP_011536002.1:p.Leu257_Glu258insCys
XM_011537701.3:c.771_772insTGT	XP_011536003.1:p.Leu257_Glu258insCys
XM_017010013.2:c.771_772insTGT	XP_016865502.1:p.Leu257_Glu258insCys
XR_002956197.1:n.767_768insTGT
XR_427781.4:n.767_768insTGT
XR_944338.3:n.846_847insTGT
XR_944339.3:n.846_847insTGT
NM_033449.3:c.771_772insTGT MANE Select	NP_258260.1:p.Leu257_Glu258insCys