Canonical Allele Identifier: CA7309592

Gene: CCDC88C

Linked Data

• dbSNP Id: rs764815157
• ExAC: 14:91779491 TCCAGCTCCTTCAGCTTGCCGGCTGCGTCCCTGCAGCGGG / T
• gnomAD v2: 14-91779491-TCCAGCTCCTTCAGCTTGCCGGCTGCGTCCCTGCAGCGGG-T
• gnomAD v3: 14-91313147-TCCAGCTCCTTCAGCTTGCCGGCTGCGTCCCTGCAGCGGG-T
• gnomAD v4: 14-91313147-TCCAGCTCCTTCAGCTTGCCGGCTGCGTCCCTGCAGCGGG-T
• MyVariant Identifiers: chr14:g.91779492_91779530del (hg19) ; chr14:g.91313148_91313186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313158_91313196del , CM000676.2:g.91313158_91313196del	GRCh38
NC_000014.8:g.91779502_91779540del , CM000676.1:g.91779502_91779540del	GRCh37
NC_000014.7:g.90849255_90849293del	NCBI36
NG_033118.1:g.109659_109697del
NG_033118.2:g.109659_109697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2630_2668del MANE Select	ENSP00000374507.6:p.Ala877_Leu889del
ENST00000389857.10:c.2630_2668del	ENSP00000374507.6:p.Ala877_Leu889del
NM_001080414.3:c.2630_2668del	NP_001073883.2:p.Ala877_Leu889del
XM_005267691.3:c.2630_2668del	XP_005267748.1:p.Ala877_Leu889del
XM_011536796.1:c.2522_2560del	XP_011535098.1:p.Ala841_Leu853del
XR_429316.2:n.2758_2796del
XR_943459.1:n.2758_2796del
XM_005267691.5:c.2630_2668del	XP_005267748.1:p.Ala877_Leu889del
XM_011536796.2:c.2522_2560del	XP_011535098.1:p.Ala841_Leu853del
XM_017021335.2:c.2630_2668del	XP_016876824.1:p.Ala877_Leu889del
XM_017021337.2:c.2630_2668del	XP_016876826.1:p.Ala877_Leu889del
XR_429316.4:n.2756_2794del
NM_001080414.4:c.2630_2668del MANE Select	NP_001073883.2:p.Ala877_Leu889del