Canonical Allele Identifier: CA2741399897
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91305796_91305798del , CM000676.2:g.91305796_91305798del GRCh38
NC_000014.8:g.91772140_91772142del , CM000676.1:g.91772140_91772142del GRCh37
NC_000014.7:g.90841893_90841895del NCBI36
NG_033118.1:g.117050_117052del
NG_033118.2:g.117050_117052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.3327_3329del MANE Select ENSP00000374507.6:p.Thr1110del
ENST00000389857.10:c.3327_3329del ENSP00000374507.6:p.Thr1110del
NM_001080414.3:c.3327_3329del NP_001073883.2:p.Thr1110del
XM_005267691.3:c.3327_3329del XP_005267748.1:p.Thr1110del
XM_011536796.1:c.3219_3221del XP_011535098.1:p.Thr1074del
XR_429316.2:n.3455_3457del
XR_943459.1:n.3455_3457del
XM_005267691.5:c.3327_3329del XP_005267748.1:p.Thr1110del
XM_011536796.2:c.3219_3221del XP_011535098.1:p.Thr1074del
XM_017021335.2:c.3327_3329del XP_016876824.1:p.Thr1110del
XM_017021336.1:c.408_410del XP_016876825.1:p.Thr137del
XR_429316.4:n.3453_3455del
NM_001080414.4:c.3327_3329del MANE Select NP_001073883.2:p.Thr1110del