Canonical Allele Identifier: CA2739279956

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2796427
• ClinVar RCV Id: RCV003670593

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305934_91305941del , CM000676.2:g.91305934_91305941del	GRCh38
NC_000014.8:g.91772278_91772285del , CM000676.1:g.91772278_91772285del	GRCh37
NC_000014.7:g.90842031_90842038del	NCBI36
NG_033118.1:g.116906_116913del
NG_033118.2:g.116906_116913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3196-13_3196-6del MANE Select	ENSP00000374507.6:n.3196-13_3196-6del
ENST00000389857.10:c.3196-13_3196-6del	ENSP00000374507.6:n.3196-13_3196-6del
NM_001080414.3:c.3196-13_3196-6del	NP_001073883.2:n.3196-13_3196-6del
XM_005267691.3:c.3196-13_3196-6del	XP_005267748.1:n.3196-13_3196-6del
XM_011536796.1:c.3088-13_3088-6del	XP_011535098.1:n.3088-13_3088-6del
XR_429316.2:n.3324-13_3324-6del
XR_943459.1:n.3324-13_3324-6del
XM_005267691.5:c.3196-13_3196-6del	XP_005267748.1:n.3196-13_3196-6del
XM_011536796.2:c.3088-13_3088-6del	XP_011535098.1:n.3088-13_3088-6del
XM_017021335.2:c.3196-13_3196-6del	XP_016876824.1:n.3196-13_3196-6del
XM_017021336.1:c.277-13_277-6del	XP_016876825.1:n.277-13_277-6del
XR_429316.4:n.3322-13_3322-6del
NM_001080414.4:c.3196-13_3196-6del MANE Select	NP_001073883.2:n.3196-13_3196-6del