Canonical Allele Identifier: CA2626125152

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279169-ATTATAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279170_91279176del , CM000676.2:g.91279170_91279176del	GRCh38
NC_000014.8:g.91745514_91745520del , CM000676.1:g.91745514_91745520del	GRCh37
NC_000014.7:g.90815267_90815273del	NCBI36
NG_033118.1:g.143669_143675del
NG_033118.2:g.143669_143675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+62_4768+68del MANE Select	ENSP00000374507.6:n.4768+62_4768+68del
ENST00000331194.8:c.340+62_340+68del	ENSP00000330332.8:n.340+62_340+68del
ENST00000334448.5:n.580+62_580+68del
ENST00000389857.10:c.4768+62_4768+68del	ENSP00000374507.6:n.4768+62_4768+68del
ENST00000556726.5:c.996+62_996+68del
ENST00000557455.1:n.740+62_740+68del
NM_001080414.3:c.4768+62_4768+68del	NP_001073883.2:n.4768+62_4768+68del
XM_011536796.1:c.4660+62_4660+68del	XP_011535098.1:n.4660+62_4660+68del
XR_429316.2:n.5043+62_5043+68del
XM_011536796.2:c.4660+62_4660+68del	XP_011535098.1:n.4660+62_4660+68del
XM_017021336.1:c.1849+62_1849+68del	XP_016876825.1:n.1849+62_1849+68del
XR_429316.4:n.5041+62_5041+68del
NM_001080414.4:c.4768+62_4768+68del MANE Select	NP_001073883.2:n.4768+62_4768+68del