Canonical Allele Identifier: CA7309162

Gene: CCDC88C

Linked Data

• dbSNP Id: rs765211992
• ExAC: 14:91763612 TCCCTGTCTC / T
• gnomAD v2: 14-91763612-TCCCTGTCTC-T
• gnomAD v4: 14-91297268-TCCCTGTCTC-T
• MyVariant Identifiers: chr14:g.91763613_91763621del (hg19) ; chr14:g.91297269_91297277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91297271_91297279del , CM000676.2:g.91297271_91297279del	GRCh38
NC_000014.8:g.91763615_91763623del , CM000676.1:g.91763615_91763623del	GRCh37
NC_000014.7:g.90833368_90833376del	NCBI36
NG_033118.1:g.125568_125576del
NG_033118.2:g.125568_125576del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.3966+28_3966+36del MANE Select	ENSP00000374507.6:n.3966+28_3966+36del
ENST00000389857.10:c.3966+28_3966+36del	ENSP00000374507.6:n.3966+28_3966+36del
NM_001080414.3:c.3966+28_3966+36del	NP_001073883.2:n.3966+28_3966+36del
XM_005267691.3:c.3966+28_3966+36del	XP_005267748.1:n.3966+28_3966+36del
XM_011536796.1:c.3858+28_3858+36del	XP_011535098.1:n.3858+28_3858+36del
XR_429316.2:n.4094+28_4094+36del
XR_943459.1:n.4094+28_4094+36del
XM_005267691.5:c.3966+28_3966+36del	XP_005267748.1:n.3966+28_3966+36del
XM_011536796.2:c.3858+28_3858+36del	XP_011535098.1:n.3858+28_3858+36del
XM_017021335.2:c.3966+28_3966+36del	XP_016876824.1:n.3966+28_3966+36del
XM_017021336.1:c.1047+28_1047+36del	XP_016876825.1:n.1047+28_1047+36del
XR_429316.4:n.4092+28_4092+36del
NM_001080414.4:c.3966+28_3966+36del MANE Select	NP_001073883.2:n.3966+28_3966+36del