Canonical Allele Identifier: CA2575603294

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 1710208
• ClinVar RCV Id: RCV002291135
• gnomAD v4: 14-91305796-GTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305800_91305802del , CM000676.2:g.91305800_91305802del	GRCh38
NC_000014.8:g.91772144_91772146del , CM000676.1:g.91772144_91772146del	GRCh37
NC_000014.7:g.90841897_90841899del	NCBI36
NG_033118.1:g.117046_117048del
NG_033118.2:g.117046_117048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3323_3325del MANE Select	ENSP00000374507.6:p.Asn1108del
ENST00000389857.10:c.3323_3325del	ENSP00000374507.6:p.Asn1108del
NM_001080414.3:c.3323_3325del	NP_001073883.2:p.Asn1108del
XM_005267691.3:c.3323_3325del	XP_005267748.1:p.Asn1108del
XM_011536796.1:c.3215_3217del	XP_011535098.1:p.Asn1072del
XR_429316.2:n.3451_3453del
XR_943459.1:n.3451_3453del
XM_005267691.5:c.3323_3325del	XP_005267748.1:p.Asn1108del
XM_011536796.2:c.3215_3217del	XP_011535098.1:p.Asn1072del
XM_017021335.2:c.3323_3325del	XP_016876824.1:p.Asn1108del
XM_017021336.1:c.404_406del	XP_016876825.1:p.Asn135del
XR_429316.4:n.3449_3451del
NM_001080414.4:c.3323_3325del MANE Select	NP_001073883.2:p.Asn1108del