Canonical Allele Identifier: CA1206132350
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541690_169541705delinsCTTGAATGGGGAATGT , CM000663.2:g.169541690_169541705delinsCTTGAATGGGGAATGT GRCh38
NC_000001.10:g.169510928_169510943delinsCTTGAATGGGGAATGT , CM000663.1:g.169510928_169510943delinsCTTGAATGGGGAATGT GRCh37
NC_000001.9:g.167777552_167777567delinsCTTGAATGGGGAATGT NCBI36
NG_011806.1:g.49827_49842delinsACATTCCCCATTCAAG , LRG_553:g.49827_49842delinsACATTCCCCATTCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3385_3400delinsACATTCCCCATTCAAG MANE Select ENSP00000356771.3:p.Thr1129=
ENST00000367796.3:c.3400_3415delinsACATTCCCCATTCAAG ENSP00000356770.3:p.Thr1134=
ENST00000367797.7:c.3385_3400delinsACATTCCCCATTCAAG ENSP00000356771.3:p.Thr1129=
NM_000130.4:c.3385_3400delinsACATTCCCCATTCAAG , LRG_553t1:c.3385_3400delinsACATTCCCCATTCAAG NP_000121.2:p.Thr1129=
XM_017000660.2:c.2974_2989delinsACATTCCCCATTCAAG XP_016856149.1:p.Thr992=
NM_000130.5:c.3385_3400delinsACATTCCCCATTCAAG MANE Select NP_000121.2:p.Thr1129=