Canonical Allele Identifier: CA2802581707
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91279203_91279206del , CM000676.2:g.91279203_91279206del GRCh38
NC_000014.8:g.91745547_91745550del , CM000676.1:g.91745547_91745550del GRCh37
NC_000014.7:g.90815300_90815303del NCBI36
NG_033118.1:g.143642_143645del
NG_033118.2:g.143642_143645del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.4768+35_4768+38del MANE Select ENSP00000374507.6:n.4768+35_4768+38del
ENST00000331194.8:c.340+35_340+38del ENSP00000330332.8:n.340+35_340+38del
ENST00000334448.5:n.580+35_580+38del
ENST00000389857.10:c.4768+35_4768+38del ENSP00000374507.6:n.4768+35_4768+38del
ENST00000556726.5:c.996+35_996+38del
ENST00000557455.1:n.740+35_740+38del
NM_001080414.3:c.4768+35_4768+38del NP_001073883.2:n.4768+35_4768+38del
XM_011536796.1:c.4660+35_4660+38del XP_011535098.1:n.4660+35_4660+38del
XR_429316.2:n.5043+35_5043+38del
XM_011536796.2:c.4660+35_4660+38del XP_011535098.1:n.4660+35_4660+38del
XM_017021336.1:c.1849+35_1849+38del XP_016876825.1:n.1849+35_1849+38del
XR_429316.4:n.5041+35_5041+38del
NM_001080414.4:c.4768+35_4768+38del MANE Select NP_001073883.2:n.4768+35_4768+38del