Canonical Allele Identifier: CA2626125355

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279327-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279331del , CM000676.2:g.91279331del	GRCh38
NC_000014.8:g.91745675del , CM000676.1:g.91745675del	GRCh37
NC_000014.7:g.90815428del	NCBI36
NG_033118.1:g.143517del
NG_033118.2:g.143517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-22del MANE Select	ENSP00000374507.6:n.4700-22del
ENST00000331194.8:c.272-22del	ENSP00000330332.8:n.272-22del
ENST00000334448.5:n.512-22del
ENST00000389857.10:c.4700-22del	ENSP00000374507.6:n.4700-22del
ENST00000556726.5:c.928-22del
ENST00000557455.1:n.650del
NM_001080414.3:c.4700-22del	NP_001073883.2:n.4700-22del
XM_011536796.1:c.4592-22del	XP_011535098.1:n.4592-22del
XR_429316.2:n.4975-22del
XM_011536796.2:c.4592-22del	XP_011535098.1:n.4592-22del
XM_017021336.1:c.1781-22del	XP_016876825.1:n.1781-22del
XR_429316.4:n.4973-22del
NM_001080414.4:c.4700-22del MANE Select	NP_001073883.2:n.4700-22del