Canonical Allele Identifier: CA2690731274

Gene: FAM120AOS

Linked Data

• gnomAD v4: 9-93447639-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93447641dup , CM000671.2:g.93447641dup	GRCh38
NC_000009.11:g.96209923dup , CM000671.1:g.96209923dup	GRCh37
NC_000009.10:g.95249744dup	NCBI36
NG_054727.1:g.10962dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000375412.11:c.742dup MANE Select	ENSP00000364561.5:p.Thr248AsnfsTer13
ENST00000649557.1:c.196dup	ENSP00000496904.1:p.Thr66AsnfsTer13
ENST00000650398.1:n.765dup
ENST00000375412.9:c.742dup	ENSP00000364561.5:p.Thr248AsnfsTer13
ENST00000423591.5:c.196dup	ENSP00000414298.1:p.Thr66AsnfsTer13
ENST00000428152.1:n.458dup
ENST00000428378.1:c.193dup	ENSP00000416978.1:p.Thr65AsnfsTer?
ENST00000476484.5:c.*140dup	ENSP00000429212.1:n.*140dup
ENST00000479094.5:n.759dup
ENST00000483056.5:n.564dup
ENST00000483149.6:n.697dup
ENST00000520403.1:n.739dup
ENST00000520470.5:n.818dup
ENST00000523407.1:n.620dup
NM_198841.2:c.742dup	NP_942138.2:p.Thr248AsnfsTer13
XM_005251736.2:c.829dup	XP_005251793.1:p.Thr277AsnfsTer13
NM_001322224.2:c.196dup	NP_001309153.1:p.Thr66AsnfsTer13
NM_198841.3:c.742dup	NP_942138.2:p.Thr248AsnfsTer13
NR_136229.2:n.1041dup
NR_136230.2:n.1162dup
NR_136231.2:n.1755dup
NR_136232.2:n.967dup
NR_136233.2:n.790dup
NR_136234.2:n.824dup
NR_136235.2:n.846dup
NR_136236.2:n.1049dup
NR_136237.2:n.1170dup
NR_136238.2:n.911dup
NM_198841.4:c.742dup MANE Select	NP_942138.2:p.Thr248AsnfsTer13
NM_001322224.3:c.196dup	NP_001309153.1:p.Thr66AsnfsTer13
NR_136231.3:n.1735dup
NR_136232.3:n.964dup
NR_136233.3:n.787dup
NR_136234.3:n.821dup
NR_136235.3:n.843dup
NR_136236.3:n.1046dup
NR_136237.3:n.1167dup
NR_136238.3:n.908dup