Canonical Allele Identifier: CA265562559

Gene: CCDC88C

Linked Data

• dbSNP Id: rs550176552
• gnomAD v2: 14-91772549-GCTTTC-G
• gnomAD v3: 14-91306205-GCTTTC-G
• gnomAD v4: 14-91306205-GCTTTC-G
• MyVariant Identifiers: chr14:g.91772550_91772554del (hg19) ; chr14:g.91306206_91306210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91306210_91306214del , CM000676.2:g.91306210_91306214del	GRCh38
NC_000014.8:g.91772554_91772558del , CM000676.1:g.91772554_91772558del	GRCh37
NC_000014.7:g.90842307_90842311del	NCBI36
NG_033118.1:g.116635_116639del
NG_033118.2:g.116635_116639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3196-284_3196-280del MANE Select	ENSP00000374507.6:n.3196-284_3196-280del
ENST00000389857.10:c.3196-284_3196-280del	ENSP00000374507.6:n.3196-284_3196-280del
NM_001080414.3:c.3196-284_3196-280del	NP_001073883.2:n.3196-284_3196-280del
XM_005267691.3:c.3196-284_3196-280del	XP_005267748.1:n.3196-284_3196-280del
XM_011536796.1:c.3088-284_3088-280del	XP_011535098.1:n.3088-284_3088-280del
XR_429316.2:n.3324-284_3324-280del
XR_943459.1:n.3324-284_3324-280del
XM_005267691.5:c.3196-284_3196-280del	XP_005267748.1:n.3196-284_3196-280del
XM_011536796.2:c.3088-284_3088-280del	XP_011535098.1:n.3088-284_3088-280del
XM_017021335.2:c.3196-284_3196-280del	XP_016876824.1:n.3196-284_3196-280del
XM_017021336.1:c.277-284_277-280del	XP_016876825.1:n.277-284_277-280del
XR_429316.4:n.3322-284_3322-280del
NM_001080414.4:c.3196-284_3196-280del MANE Select	NP_001073883.2:n.3196-284_3196-280del