Canonical Allele Identifier: CA2626130323

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313031-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313032dup , CM000676.2:g.91313032dup	GRCh38
NC_000014.8:g.91779376dup , CM000676.1:g.91779376dup	GRCh37
NC_000014.7:g.90849129dup	NCBI36
NG_033118.1:g.109813dup
NG_033118.2:g.109813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2736+48dup MANE Select	ENSP00000374507.6:n.2736+48dup
ENST00000389857.10:c.2736+48dup	ENSP00000374507.6:n.2736+48dup
NM_001080414.3:c.2736+48dup	NP_001073883.2:n.2736+48dup
XM_005267691.3:c.2736+48dup	XP_005267748.1:n.2736+48dup
XM_011536796.1:c.2628+48dup	XP_011535098.1:n.2628+48dup
XR_429316.2:n.2864+48dup
XR_943459.1:n.2864+48dup
XM_005267691.5:c.2736+48dup	XP_005267748.1:n.2736+48dup
XM_011536796.2:c.2628+48dup	XP_011535098.1:n.2628+48dup
XM_017021335.2:c.2736+48dup	XP_016876824.1:n.2736+48dup
XM_017021336.1:c.-56+48dup	XP_016876825.1:n.-56+48dup
XM_017021337.2:c.2736+48dup	XP_016876826.1:n.2736+48dup
XR_429316.4:n.2862+48dup
NM_001080414.4:c.2736+48dup MANE Select	NP_001073883.2:n.2736+48dup