Canonical Allele Identifier: CA7309716

Gene: CCDC88C

Linked Data

• dbSNP Id: rs752042849
• ExAC: 14:91779948 CCTT / C
• gnomAD v4: 14-91313604-CCTT-C
• MyVariant Identifiers: chr14:g.91779949_91779951del (hg19) ; chr14:g.91313605_91313607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313607_91313609del , CM000676.2:g.91313607_91313609del	GRCh38
NC_000014.8:g.91779951_91779953del , CM000676.1:g.91779951_91779953del	GRCh37
NC_000014.7:g.90849704_90849706del	NCBI36
NG_033118.1:g.109238_109240del
NG_033118.2:g.109238_109240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2209_2211del MANE Select	ENSP00000374507.6:p.Lys737del
ENST00000389857.10:c.2209_2211del	ENSP00000374507.6:p.Lys737del
NM_001080414.3:c.2209_2211del	NP_001073883.2:p.Lys737del
XM_005267691.3:c.2209_2211del	XP_005267748.1:p.Lys737del
XM_011536796.1:c.2101_2103del	XP_011535098.1:p.Lys701del
XR_429316.2:n.2337_2339del
XR_943459.1:n.2337_2339del
XM_005267691.5:c.2209_2211del	XP_005267748.1:p.Lys737del
XM_011536796.2:c.2101_2103del	XP_011535098.1:p.Lys701del
XM_017021335.2:c.2209_2211del	XP_016876824.1:p.Lys737del
XM_017021337.2:c.2209_2211del	XP_016876826.1:p.Lys737del
XR_429316.4:n.2335_2337del
NM_001080414.4:c.2209_2211del MANE Select	NP_001073883.2:p.Lys737del