Canonical Allele Identifier: CA2739278569

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2830418
• ClinVar RCV Id: RCV003678733

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272736_91272737delinsCG , CM000676.2:g.91272736_91272737delinsCG	GRCh38
NC_000014.8:g.91739080_91739081delinsCG , CM000676.1:g.91739080_91739081delinsCG	GRCh37
NC_000014.7:g.90808833_90808834delinsCG	NCBI36
NG_033118.1:g.150108_150109delinsCG
NG_033118.2:g.150108_150109delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5975_5976delinsCG MANE Select	ENSP00000374507.6:p.Leu1992Pro
ENST00000331194.8:c.1409_1410delinsCG	ENSP00000330332.8:p.Leu470Pro
ENST00000389857.10:c.5975_5976delinsCG	ENSP00000374507.6:p.Leu1992Pro
ENST00000556726.5:c.2203_2204delinsCG
NM_001080414.3:c.5975_5976delinsCG	NP_001073883.2:p.Leu1992Pro
XM_011536796.1:c.5867_5868delinsCG	XP_011535098.1:p.Leu1956Pro
XM_011536796.2:c.5867_5868delinsCG	XP_011535098.1:p.Leu1956Pro
XM_017021336.1:c.3056_3057delinsCG	XP_016876825.1:p.Leu1019Pro
NM_001080414.4:c.5975_5976delinsCG MANE Select	NP_001073883.2:p.Leu1992Pro