Canonical Allele Identifier: CA1587311249
Gene: FCHSD1 HGNC NCBI

Linked Data

dbSNP Id: rs2099907738

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141646964_141646965insAA , CM000667.2:g.141646964_141646965insAA GRCh38
NC_000005.9:g.141026531_141026532insAA , CM000667.1:g.141026531_141026532insAA GRCh37
NC_000005.8:g.141006715_141006716insAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.924+171_924+172insTT MANE Select ENSP00000399259.2:n.924+171_924+172insTT
ENST00000435817.6:c.924+171_924+172insTT ENSP00000399259.2:n.924+171_924+172insTT
ENST00000522126.5:c.696+171_696+172insTT ENSP00000427796.1:n.696+171_696+172insTT
ENST00000522386.1:n.530+171_530+172insTT
ENST00000522763.5:n.228+171_228+172insTT
ENST00000522783.5:c.918+171_918+172insTT ENSP00000428677.1:n.918+171_918+172insTT
ENST00000523856.5:n.182+171_182+172insTT
NM_033449.2:c.924+171_924+172insTT NP_258260.1:n.924+171_924+172insTT
XM_005268524.3:c.918+171_918+172insTT XP_005268581.1:n.918+171_918+172insTT
XM_006714803.2:c.795+171_795+172insTT XP_006714866.1:n.795+171_795+172insTT
XM_011537698.1:c.924+171_924+172insTT XP_011536000.1:n.924+171_924+172insTT
XM_011537699.1:c.924+171_924+172insTT XP_011536001.1:n.924+171_924+172insTT
XM_011537700.1:c.924+171_924+172insTT XP_011536002.1:n.924+171_924+172insTT
XM_011537701.1:c.924+171_924+172insTT XP_011536003.1:n.924+171_924+172insTT
XR_427781.2:n.978+171_978+172insTT
XR_944338.1:n.984+171_984+172insTT
XR_944339.1:n.984+171_984+172insTT
XM_005268524.5:c.918+171_918+172insTT XP_005268581.1:n.918+171_918+172insTT
XM_006714803.4:c.795+171_795+172insTT XP_006714866.1:n.795+171_795+172insTT
XM_011537698.3:c.924+171_924+172insTT XP_011536000.1:n.924+171_924+172insTT
XM_011537700.3:c.924+171_924+172insTT XP_011536002.1:n.924+171_924+172insTT
XM_011537701.3:c.924+171_924+172insTT XP_011536003.1:n.924+171_924+172insTT
XM_017010013.2:c.924+171_924+172insTT XP_016865502.1:n.924+171_924+172insTT
XR_002956197.1:n.920+171_920+172insTT
XR_427781.4:n.920+171_920+172insTT
XR_944338.3:n.999+171_999+172insTT
XR_944339.3:n.999+171_999+172insTT
NM_033449.3:c.924+171_924+172insTT MANE Select NP_258260.1:n.924+171_924+172insTT