Canonical Allele Identifier: CA2626131020

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313478-G-GGCTGCTGCTCTCCAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313479_91313495dup , CM000676.2:g.91313479_91313495dup	GRCh38
NC_000014.8:g.91779823_91779839dup , CM000676.1:g.91779823_91779839dup	GRCh37
NC_000014.7:g.90849576_90849592dup	NCBI36
NG_033118.1:g.109350_109366dup
NG_033118.2:g.109350_109366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2321_2337dup MANE Select	ENSP00000374507.6:p.His780AlafsTer?
ENST00000389857.10:c.2321_2337dup	ENSP00000374507.6:p.His780AlafsTer?
NM_001080414.3:c.2321_2337dup	NP_001073883.2:p.His780AlafsTer?
XM_005267691.3:c.2321_2337dup	XP_005267748.1:p.His780AlafsTer?
XM_011536796.1:c.2213_2229dup	XP_011535098.1:p.His744AlafsTer?
XR_429316.2:n.2449_2465dup
XR_943459.1:n.2449_2465dup
XM_005267691.5:c.2321_2337dup	XP_005267748.1:p.His780AlafsTer?
XM_011536796.2:c.2213_2229dup	XP_011535098.1:p.His744AlafsTer?
XM_017021335.2:c.2321_2337dup	XP_016876824.1:p.His780AlafsTer?
XM_017021337.2:c.2321_2337dup	XP_016876826.1:p.His780AlafsTer?
XR_429316.4:n.2447_2463dup
NM_001080414.4:c.2321_2337dup MANE Select	NP_001073883.2:p.His780AlafsTer?