Canonical Allele Identifier: CA2580091508
Community Standard Title: NM_001330.5(CTF1):c.502_504del (p.Phe168del)
Gene: CTF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902435_30902437del , CM000678.2:g.30902435_30902437del GRCh38
NC_000016.9:g.30913756_30913758del , CM000678.1:g.30913756_30913758del GRCh37
NC_000016.8:g.30821257_30821259del NCBI36
NG_009171.1:g.10829_10831del , LRG_408:g.10829_10831del

Transcript Alleles

HGVS Amino-acid Change
NM_001330.5:c.502_504del MANE Select NP_001321.1:p.Phe168del
ENST00000279804.3:c.502_504del MANE Select ENSP00000279804.2:p.Phe168del
NM_001142544.1:c.499_501del NP_001136016.1:p.Phe167del
NM_001142544.2:c.499_501del NP_001136016.1:p.Phe167del
NM_001142544.3:c.499_501del NP_001136016.1:p.Phe167del
NM_001330.3:c.502_504del , LRG_408t1:c.502_504del NP_001321.1:p.Phe168del
NR_165660.1:n.640_642del
ENST00000279804.2:c.502_504del ENSP00000279804.2:p.Phe168del
ENST00000395019.3:c.499_501del ENSP00000378465.3:p.Phe167del
XM_011545759.1:c.568_570del XP_011544061.1:p.Phe190del
XM_011545759.2:c.568_570del XP_011544061.1:p.Phe190del
XM_011545760.1:c.526_528del XP_011544062.1:p.Phe176del
XM_011545760.2:c.526_528del XP_011544062.1:p.Phe176del