Canonical Allele Identifier: CA2154902041

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273352_91273362delinsACCGGAGCCTG , CM000676.2:g.91273352_91273362delinsACCGGAGCCTG	GRCh38
NC_000014.8:g.91739696_91739706delinsACCGGAGCCTG , CM000676.1:g.91739696_91739706delinsACCGGAGCCTG	GRCh37
NC_000014.7:g.90809449_90809459delinsACCGGAGCCTG	NCBI36
NG_033118.1:g.149483_149493delinsCAGGCTCCGGT
NG_033118.2:g.149483_149493delinsCAGGCTCCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5350_5360delinsCAGGCTCCGGT MANE Select	ENSP00000374507.6:p.Gln1784=
ENST00000331194.8:c.922_924+8delinsCAGGCTCCGGT
ENST00000389857.10:c.5350_5360delinsCAGGCTCCGGT	ENSP00000374507.6:p.Gln1784=
ENST00000556726.5:c.1578_1588delinsCAGGCTCCGGT
NM_001080414.3:c.5350_5360delinsCAGGCTCCGGT	NP_001073883.2:p.Gln1784=
XM_011536796.1:c.5242_5252delinsCAGGCTCCGGT	XP_011535098.1:p.Gln1748=
XM_011536796.2:c.5242_5252delinsCAGGCTCCGGT	XP_011535098.1:p.Gln1748=
XM_017021336.1:c.2431_2441delinsCAGGCTCCGGT	XP_016876825.1:p.Gln811=
NM_001080414.4:c.5350_5360delinsCAGGCTCCGGT MANE Select	NP_001073883.2:p.Gln1784=