Canonical Allele Identifier: CA774447756
Community Standard Title: NM_017565.4(FAM20A):c.404+62_404+65del
Gene: FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68600199_68600202del , CM000679.2:g.68600199_68600202del GRCh38
NC_000017.10:g.66596340_66596343del , CM000679.1:g.66596340_66596343del GRCh37
NC_000017.9:g.64107935_64107938del NCBI36
NG_029809.1:g.5754_5757del

Transcript Alleles

HGVS Amino-acid Change
NM_017565.4:c.404+62_404+65del MANE Select NP_060035.2:n.404+62_404+65del
ENST00000592554.2:c.404+62_404+65del MANE Select ENSP00000468308.1:n.404+62_404+65del
NM_001243746.1:c.-237+62_-237+65del NP_001230675.1:n.-237+62_-237+65del
NM_001243746.2:c.-237+62_-237+65del NP_001230675.1:n.-237+62_-237+65del
NM_017565.3:c.404+62_404+65del NP_060035.2:n.404+62_404+65del
ENST00000590074.5:c.334+62_334+65del
ENST00000592554.1:c.404+62_404+65del ENSP00000468308.1:n.404+62_404+65del
XM_006721960.2:c.404+62_404+65del XP_006722023.1:n.404+62_404+65del
XM_011524917.1:c.404+62_404+65del XP_011523219.1:n.404+62_404+65del
XM_011524918.1:c.404+62_404+65del XP_011523220.1:n.404+62_404+65del
XM_011524918.3:c.404+62_404+65del XP_011523220.1:n.404+62_404+65del
XM_011524919.1:c.404+62_404+65del XP_011523221.1:n.404+62_404+65del
XM_011524920.1:c.404+62_404+65del XP_011523222.1:n.404+62_404+65del
XM_011524921.1:c.404+62_404+65del XP_011523223.1:n.404+62_404+65del
XM_017024781.2:c.404+62_404+65del XP_016880270.1:n.404+62_404+65del
XR_001752543.2:n.475+62_475+65del
XR_001752544.2:n.475+62_475+65del
XR_002958041.1:n.475+62_475+65del
XR_429905.1:n.532+62_532+65del
XR_429905.2:n.475+62_475+65del
XR_934486.1:n.532+62_532+65del
XR_934487.1:n.532+62_532+65del
XR_934487.3:n.475+62_475+65del
XR_934488.1:n.532+62_532+65del
XR_934489.1:n.532+62_532+65del
XR_934490.1:n.532+62_532+65del