Canonical Allele Identifier: CA2626127261

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272740-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272744del , CM000676.2:g.91272744del	GRCh38
NC_000014.8:g.91739088del , CM000676.1:g.91739088del	GRCh37
NC_000014.7:g.90808841del	NCBI36
NG_033118.1:g.150104del
NG_033118.2:g.150104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5971del MANE Select	ENSP00000374507.6:p.His1991ThrfsTer?
ENST00000331194.8:c.1405del	ENSP00000330332.8:p.His469ThrfsTer?
ENST00000389857.10:c.5971del	ENSP00000374507.6:p.His1991ThrfsTer?
ENST00000556726.5:c.2199del
NM_001080414.3:c.5971del	NP_001073883.2:p.His1991ThrfsTer?
XM_011536796.1:c.5863del	XP_011535098.1:p.His1955ThrfsTer?
XM_011536796.2:c.5863del	XP_011535098.1:p.His1955ThrfsTer?
XM_017021336.1:c.3052del	XP_016876825.1:p.His1018ThrfsTer?
NM_001080414.4:c.5971del MANE Select	NP_001073883.2:p.His1991ThrfsTer?