Canonical Allele Identifier: CA2626123437

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273497-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273502del , CM000676.2:g.91273502del	GRCh38
NC_000014.8:g.91739846del , CM000676.1:g.91739846del	GRCh37
NC_000014.7:g.90809599del	NCBI36
NG_033118.1:g.149347del
NG_033118.2:g.149347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5214del MANE Select	ENSP00000374507.6:p.Thr1739ProfsTer7
ENST00000331194.8:c.786del	ENSP00000330332.8:p.Thr263ProfsTer7
ENST00000334448.5:n.1026del
ENST00000389857.10:c.5214del	ENSP00000374507.6:p.Thr1739ProfsTer7
ENST00000556726.5:c.1442del
NM_001080414.3:c.5214del	NP_001073883.2:p.Thr1739ProfsTer7
XM_011536796.1:c.5106del	XP_011535098.1:p.Thr1703ProfsTer7
XR_429316.2:n.5489del
XM_011536796.2:c.5106del	XP_011535098.1:p.Thr1703ProfsTer7
XM_017021336.1:c.2295del	XP_016876825.1:p.Thr766ProfsTer7
XR_429316.4:n.5487del
NM_001080414.4:c.5214del MANE Select	NP_001073883.2:p.Thr1739ProfsTer7