Canonical Allele Identifier: CA2575602980

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2881725
• ClinVar RCV Id: RCV003708252
• gnomAD v4: 14-91273408-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273412del , CM000676.2:g.91273412del	GRCh38
NC_000014.8:g.91739756del , CM000676.1:g.91739756del	GRCh37
NC_000014.7:g.90809509del	NCBI36
NG_033118.1:g.149436del
NG_033118.2:g.149436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5303del MANE Select	ENSP00000374507.6:p.Pro1768ArgfsTer?
ENST00000331194.8:c.875del	ENSP00000330332.8:p.Pro292ArgfsTer22
ENST00000389857.10:c.5303del	ENSP00000374507.6:p.Pro1768ArgfsTer?
ENST00000556726.5:c.1531del
NM_001080414.3:c.5303del	NP_001073883.2:p.Pro1768ArgfsTer?
XM_011536796.1:c.5195del	XP_011535098.1:p.Pro1732ArgfsTer?
XM_011536796.2:c.5195del	XP_011535098.1:p.Pro1732ArgfsTer?
XM_017021336.1:c.2384del	XP_016876825.1:p.Pro795ArgfsTer?
NM_001080414.4:c.5303del MANE Select	NP_001073883.2:p.Pro1768ArgfsTer?