Canonical Allele Identifier: CA2154902149
Gene: CCDC88C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273375_91273377delinsCAG , CM000676.2:g.91273375_91273377delinsCAG GRCh38
NC_000014.8:g.91739719_91739721delinsCAG , CM000676.1:g.91739719_91739721delinsCAG GRCh37
NC_000014.7:g.90809472_90809474delinsCAG NCBI36
NG_033118.1:g.149468_149470delinsCTG
NG_033118.2:g.149468_149470delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5335_5337delinsCTG MANE Select ENSP00000374507.6:p.Leu1779=
ENST00000331194.8:c.907_909delinsCTG ENSP00000330332.8:p.Leu303=
ENST00000389857.10:c.5335_5337delinsCTG ENSP00000374507.6:p.Leu1779=
ENST00000556726.5:c.1563_1565delinsCTG
NM_001080414.3:c.5335_5337delinsCTG NP_001073883.2:p.Leu1779=
XM_011536796.1:c.5227_5229delinsCTG XP_011535098.1:p.Leu1743=
XM_011536796.2:c.5227_5229delinsCTG XP_011535098.1:p.Leu1743=
XM_017021336.1:c.2416_2418delinsCTG XP_016876825.1:p.Leu806=
NM_001080414.4:c.5335_5337delinsCTG MANE Select NP_001073883.2:p.Leu1779=
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