Canonical Allele Identifier: CA251521
Community Standard Title: NM_000140.5(FECH):c.580_584del (p.Tyr194LeufsTer16)
Gene: FECH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57566465_57566469del , CM000680.2:g.57566465_57566469del GRCh38
NC_000018.9:g.55233697_55233701del , CM000680.1:g.55233697_55233701del GRCh37
NC_000018.8:g.53384695_53384699del NCBI36
NG_008175.1:g.25273_25277del

Transcript Alleles

HGVS Amino-acid Change
NM_000140.5:c.580_584del MANE Select NP_000131.2:p.Tyr194LeufsTer16
ENST00000262093.11:c.580_584del MANE Select ENSP00000262093.6:p.Tyr194LeufsTer16
NM_000140.3:c.580_584del NP_000131.2:p.Tyr194LeufsTer16
NM_000140.4:c.580_584del NP_000131.2:p.Tyr194LeufsTer16
NM_001012515.2:c.598_602del NP_001012533.1:p.Tyr200LeufsTer16
NM_001012515.3:c.598_602del NP_001012533.1:p.Tyr200LeufsTer16
NM_001012515.4:c.598_602del NP_001012533.1:p.Tyr200LeufsTer16
NM_001371094.1:c.580_584del NP_001358023.1:p.Tyr194LeufsTer16
NM_001371095.1:c.364_368del NP_001358024.1:p.Tyr122LeufsTer16
NM_001374778.1:c.580_584del NP_001361707.1:p.Tyr194LeufsTer16
ENST00000262093.9:c.580_584del ENSP00000262093.5:p.Tyr194LeufsTer16
ENST00000382873.7:c.598_602del ENSP00000372326.3:p.Tyr200LeufsTer16
ENST00000382873.8:c.364_368del ENSP00000372326.4:p.Tyr122LeufsTer16
ENST00000585494.5:c.*307_*311del ENSP00000465243.1:n.*307_*311del
ENST00000592699.5:c.580_584del ENSP00000466263.1:p.Tyr194LeufsTer16
ENST00000592699.6:c.580_584del ENSP00000466263.1:p.Tyr194LeufsTer16
ENST00000651787.1:n.686_690del
ENST00000652755.1:c.598_602del ENSP00000498358.1:p.Tyr200LeufsTer16
ENST00000682485.1:n.755_759del
XM_011525881.1:c.598_602del XP_011524183.1:p.Tyr200LeufsTer16
XM_011525882.1:c.364_368del XP_011524184.1:p.Tyr122LeufsTer16
XM_011525882.2:c.364_368del XP_011524184.1:p.Tyr122LeufsTer16
XM_017025614.2:c.580_584del XP_016881103.1:p.Tyr194LeufsTer16
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