Canonical Allele Identifier: CA2154902045
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1889824019
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273357_91273366del , CM000676.2:g.91273357_91273366del GRCh38
NC_000014.8:g.91739701_91739710del , CM000676.1:g.91739701_91739710del GRCh37
NC_000014.7:g.90809454_90809463del NCBI36
NG_033118.1:g.149483_149492del
NG_033118.2:g.149483_149492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5350_5359del MANE Select ENSP00000374507.6:p.Gln1784CysfsTer15
ENST00000331194.8:c.922_924+7del
ENST00000389857.10:c.5350_5359del ENSP00000374507.6:p.Gln1784CysfsTer15
ENST00000556726.5:c.1578_1587del
NM_001080414.3:c.5350_5359del NP_001073883.2:p.Gln1784CysfsTer15
XM_011536796.1:c.5242_5251del XP_011535098.1:p.Gln1748CysfsTer15
XM_011536796.2:c.5242_5251del XP_011535098.1:p.Gln1748CysfsTer15
XM_017021336.1:c.2431_2440del XP_016876825.1:p.Gln811CysfsTer15
NM_001080414.4:c.5350_5359del MANE Select NP_001073883.2:p.Gln1784CysfsTer15
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