Canonical Allele Identifier: CA3480845
Gene: FCHSD1 HGNC NCBI

Linked Data

dbSNP Id: rs551678974

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647480_141647481del , CM000667.2:g.141647480_141647481del GRCh38
NC_000005.9:g.141027047_141027048del , CM000667.1:g.141027047_141027048del GRCh37
NC_000005.8:g.141007231_141007232del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.745_746del MANE Select ENSP00000399259.2:p.Leu249AspfsTer7
ENST00000435817.6:c.745_746del ENSP00000399259.2:p.Leu249AspfsTer7
ENST00000522126.5:c.517_518del ENSP00000427796.1:p.Leu173AspfsTer7
ENST00000522386.1:n.351_352del
ENST00000522763.5:n.49_50del
ENST00000522783.5:c.739_740del ENSP00000428677.1:p.Leu247AspfsTer7
ENST00000523856.5:n.3_4del
NM_033449.2:c.745_746del NP_258260.1:p.Leu249AspfsTer7
XM_005268524.3:c.739_740del XP_005268581.1:p.Leu247AspfsTer7
XM_006714803.2:c.616_617del XP_006714866.1:p.Leu206AspfsTer7
XM_011537698.1:c.745_746del XP_011536000.1:p.Leu249AspfsTer7
XM_011537699.1:c.745_746del XP_011536001.1:p.Leu249AspfsTer7
XM_011537700.1:c.745_746del XP_011536002.1:p.Leu249AspfsTer7
XM_011537701.1:c.745_746del XP_011536003.1:p.Leu249AspfsTer7
XR_427781.2:n.799_800del
XR_944338.1:n.805_806del
XR_944339.1:n.805_806del
XM_005268524.5:c.739_740del XP_005268581.1:p.Leu247AspfsTer7
XM_006714803.4:c.616_617del XP_006714866.1:p.Leu206AspfsTer7
XM_011537698.3:c.745_746del XP_011536000.1:p.Leu249AspfsTer7
XM_011537700.3:c.745_746del XP_011536002.1:p.Leu249AspfsTer7
XM_011537701.3:c.745_746del XP_011536003.1:p.Leu249AspfsTer7
XM_017010013.2:c.745_746del XP_016865502.1:p.Leu249AspfsTer7
XR_002956197.1:n.741_742del
XR_427781.4:n.741_742del
XR_944338.3:n.820_821del
XR_944339.3:n.820_821del
NM_033449.3:c.745_746del MANE Select NP_258260.1:p.Leu249AspfsTer7