Canonical Allele Identifier: CA2626131657

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91305801-GTGCTCCTGCAGGAAGGCGCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305804_91305824del , CM000676.2:g.91305804_91305824del	GRCh38
NC_000014.8:g.91772148_91772168del , CM000676.1:g.91772148_91772168del	GRCh37
NC_000014.7:g.90841901_90841921del	NCBI36
NG_033118.1:g.117023_117043del
NG_033118.2:g.117023_117043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3300_3320del MANE Select	ENSP00000374507.6:p.Gln1100_Glu1106del
ENST00000389857.10:c.3300_3320del	ENSP00000374507.6:p.Gln1100_Glu1106del
NM_001080414.3:c.3300_3320del	NP_001073883.2:p.Gln1100_Glu1106del
XM_005267691.3:c.3300_3320del	XP_005267748.1:p.Gln1100_Glu1106del
XM_011536796.1:c.3192_3212del	XP_011535098.1:p.Gln1064_Glu1070del
XR_429316.2:n.3428_3448del
XR_943459.1:n.3428_3448del
XM_005267691.5:c.3300_3320del	XP_005267748.1:p.Gln1100_Glu1106del
XM_011536796.2:c.3192_3212del	XP_011535098.1:p.Gln1064_Glu1070del
XM_017021335.2:c.3300_3320del	XP_016876824.1:p.Gln1100_Glu1106del
XM_017021336.1:c.381_401del	XP_016876825.1:p.Gln127_Glu133del
XR_429316.4:n.3426_3446del
NM_001080414.4:c.3300_3320del MANE Select	NP_001073883.2:p.Gln1100_Glu1106del