Canonical Allele Identifier: CA2154900186
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272712_91272713delinsAC , CM000676.2:g.91272712_91272713delinsAC GRCh38
NC_000014.8:g.91739056_91739057delinsAC , CM000676.1:g.91739056_91739057delinsAC GRCh37
NC_000014.7:g.90808809_90808810delinsAC NCBI36
NG_033118.1:g.150132_150133delinsGT
NG_033118.2:g.150132_150133delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5999_6000delinsGT MANE Select ENSP00000374507.6:p.Ser2000=
ENST00000331194.8:c.1433_1434delinsGT ENSP00000330332.8:p.Ser478=
ENST00000389857.10:c.5999_6000delinsGT ENSP00000374507.6:p.Ser2000=
ENST00000556726.5:c.2227_2228delinsGT
NM_001080414.3:c.5999_6000delinsGT NP_001073883.2:p.Ser2000=
XM_011536796.1:c.5891_5892delinsGT XP_011535098.1:p.Ser1964=
XM_011536796.2:c.5891_5892delinsGT XP_011535098.1:p.Ser1964=
XM_017021336.1:c.3080_3081delinsGT XP_016876825.1:p.Ser1027=
NM_001080414.4:c.5999_6000delinsGT MANE Select NP_001073883.2:p.Ser2000=