Canonical Allele Identifier: CA2626125349

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279325-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279326_91279327del , CM000676.2:g.91279326_91279327del	GRCh38
NC_000014.8:g.91745670_91745671del , CM000676.1:g.91745670_91745671del	GRCh37
NC_000014.7:g.90815423_90815424del	NCBI36
NG_033118.1:g.143518_143519del
NG_033118.2:g.143518_143519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-21_4700-20del MANE Select	ENSP00000374507.6:n.4700-21_4700-20del
ENST00000331194.8:c.272-21_272-20del	ENSP00000330332.8:n.272-21_272-20del
ENST00000334448.5:n.512-21_512-20del
ENST00000389857.10:c.4700-21_4700-20del	ENSP00000374507.6:n.4700-21_4700-20del
ENST00000556726.5:c.928-21_928-20del
ENST00000557455.1:n.651_652del
NM_001080414.3:c.4700-21_4700-20del	NP_001073883.2:n.4700-21_4700-20del
XM_011536796.1:c.4592-21_4592-20del	XP_011535098.1:n.4592-21_4592-20del
XR_429316.2:n.4975-21_4975-20del
XM_011536796.2:c.4592-21_4592-20del	XP_011535098.1:n.4592-21_4592-20del
XM_017021336.1:c.1781-21_1781-20del	XP_016876825.1:n.1781-21_1781-20del
XR_429316.4:n.4973-21_4973-20del
NM_001080414.4:c.4700-21_4700-20del MANE Select	NP_001073883.2:n.4700-21_4700-20del