Canonical Allele Identifier: CA965925300

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1893131440
• gnomAD v3: 14-91338069-T-TCCAGCC
• gnomAD v4: 14-91338069-T-TCCAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338070_91338075dup , CM000676.2:g.91338070_91338075dup	GRCh38
NC_000014.8:g.91804414_91804419dup , CM000676.1:g.91804414_91804419dup	GRCh37
NC_000014.7:g.90874167_90874172dup	NCBI36
NG_033118.1:g.84770_84775dup
NG_033118.2:g.84770_84775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.980_985dup MANE Select	ENSP00000374507.6:p.Leu328_Glu329insGlyLeu
ENST00000389857.10:c.980_985dup	ENSP00000374507.6:p.Leu328_Glu329insGlyLeu
ENST00000554051.1:n.457_462dup
NM_001080414.3:c.980_985dup	NP_001073883.2:p.Leu328_Glu329insGlyLeu
XM_005267691.3:c.980_985dup	XP_005267748.1:p.Leu328_Glu329insGlyLeu
XM_011536796.1:c.872_877dup	XP_011535098.1:p.Leu292_Glu293insGlyLeu
XR_429316.2:n.1108_1113dup
XR_943459.1:n.1108_1113dup
XM_005267691.5:c.980_985dup	XP_005267748.1:p.Leu328_Glu329insGlyLeu
XM_011536796.2:c.872_877dup	XP_011535098.1:p.Leu292_Glu293insGlyLeu
XM_017021335.2:c.980_985dup	XP_016876824.1:p.Leu328_Glu329insGlyLeu
XM_017021337.2:c.980_985dup	XP_016876826.1:p.Leu328_Glu329insGlyLeu
XR_429316.4:n.1106_1111dup
NM_001080414.4:c.980_985dup MANE Select	NP_001073883.2:p.Leu328_Glu329insGlyLeu