Canonical Allele Identifier: CA2154902680

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273550_91273553delinsCCTT , CM000676.2:g.91273550_91273553delinsCCTT	GRCh38
NC_000014.8:g.91739894_91739897delinsCCTT , CM000676.1:g.91739894_91739897delinsCCTT	GRCh37
NC_000014.7:g.90809647_90809650delinsCCTT	NCBI36
NG_033118.1:g.149292_149295delinsAAGG
NG_033118.2:g.149292_149295delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5159_5162delinsAAGG MANE Select	ENSP00000374507.6:p.Glu1720=
ENST00000331194.8:c.731_734delinsAAGG	ENSP00000330332.8:p.Glu244=
ENST00000334448.5:n.971_974delinsAAGG
ENST00000389857.10:c.5159_5162delinsAAGG	ENSP00000374507.6:p.Glu1720=
ENST00000556726.5:c.1387_1390delinsAAGG
NM_001080414.3:c.5159_5162delinsAAGG	NP_001073883.2:p.Glu1720=
XM_011536796.1:c.5051_5054delinsAAGG	XP_011535098.1:p.Glu1684=
XR_429316.2:n.5434_5437delinsAAGG
XM_011536796.2:c.5051_5054delinsAAGG	XP_011535098.1:p.Glu1684=
XM_017021336.1:c.2240_2243delinsAAGG	XP_016876825.1:p.Glu747=
XR_429316.4:n.5432_5435delinsAAGG
NM_001080414.4:c.5159_5162delinsAAGG MANE Select	NP_001073883.2:p.Glu1720=