Canonical Allele Identifier: CA2575602982

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273597del , CM000676.2:g.91273597del	GRCh38
NC_000014.8:g.91739941del , CM000676.1:g.91739941del	GRCh37
NC_000014.7:g.90809694del	NCBI36
NG_033118.1:g.149248del
NG_033118.2:g.149248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5115del MANE Select	ENSP00000374507.6:p.Pro1707GlnfsTer?
ENST00000331194.8:c.687del	ENSP00000330332.8:p.Pro231GlnfsTer?
ENST00000334448.5:n.927del
ENST00000389857.10:c.5115del	ENSP00000374507.6:p.Pro1707GlnfsTer?
ENST00000556726.5:c.1343del
NM_001080414.3:c.5115del	NP_001073883.2:p.Pro1707GlnfsTer?
XM_011536796.1:c.5007del	XP_011535098.1:p.Pro1671GlnfsTer?
XR_429316.2:n.5390del
XM_011536796.2:c.5007del	XP_011535098.1:p.Pro1671GlnfsTer?
XM_017021336.1:c.2196del	XP_016876825.1:p.Pro734GlnfsTer?
XR_429316.4:n.5388del
NM_001080414.4:c.5115del MANE Select	NP_001073883.2:p.Pro1707GlnfsTer?