Canonical Allele Identifier: CA965930291

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1891539815
• gnomAD v3: 14-91305987-AGGT-A
• gnomAD v4: 14-91305987-AGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305988_91305990del , CM000676.2:g.91305988_91305990del	GRCh38
NC_000014.8:g.91772332_91772334del , CM000676.1:g.91772332_91772334del	GRCh37
NC_000014.7:g.90842085_90842087del	NCBI36
NG_033118.1:g.116855_116857del
NG_033118.2:g.116855_116857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3196-64_3196-62del MANE Select	ENSP00000374507.6:n.3196-64_3196-62del
ENST00000389857.10:c.3196-64_3196-62del	ENSP00000374507.6:n.3196-64_3196-62del
NM_001080414.3:c.3196-64_3196-62del	NP_001073883.2:n.3196-64_3196-62del
XM_005267691.3:c.3196-64_3196-62del	XP_005267748.1:n.3196-64_3196-62del
XM_011536796.1:c.3088-64_3088-62del	XP_011535098.1:n.3088-64_3088-62del
XR_429316.2:n.3324-64_3324-62del
XR_943459.1:n.3324-64_3324-62del
XM_005267691.5:c.3196-64_3196-62del	XP_005267748.1:n.3196-64_3196-62del
XM_011536796.2:c.3088-64_3088-62del	XP_011535098.1:n.3088-64_3088-62del
XM_017021335.2:c.3196-64_3196-62del	XP_016876824.1:n.3196-64_3196-62del
XM_017021336.1:c.277-64_277-62del	XP_016876825.1:n.277-64_277-62del
XR_429316.4:n.3322-64_3322-62del
NM_001080414.4:c.3196-64_3196-62del MANE Select	NP_001073883.2:n.3196-64_3196-62del