Canonical Allele Identifier: CA2154912576

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91337956_91337957delinsAG , CM000676.2:g.91337956_91337957delinsAG	GRCh38
NC_000014.8:g.91804300_91804301delinsAG , CM000676.1:g.91804300_91804301delinsAG	GRCh37
NC_000014.7:g.90874053_90874054delinsAG	NCBI36
NG_033118.1:g.84888_84889delinsCT
NG_033118.2:g.84888_84889delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.1050+48_1050+49delinsCT MANE Select	ENSP00000374507.6:n.1050+48_1050+49delinsCT
ENST00000389857.10:c.1050+48_1050+49delinsCT	ENSP00000374507.6:n.1050+48_1050+49delinsCT
NM_001080414.3:c.1050+48_1050+49delinsCT	NP_001073883.2:n.1050+48_1050+49delinsCT
XM_005267691.3:c.1050+48_1050+49delinsCT	XP_005267748.1:n.1050+48_1050+49delinsCT
XM_011536796.1:c.942+48_942+49delinsCT	XP_011535098.1:n.942+48_942+49delinsCT
XR_429316.2:n.1178+48_1178+49delinsCT
XR_943459.1:n.1178+48_1178+49delinsCT
XM_005267691.5:c.1050+48_1050+49delinsCT	XP_005267748.1:n.1050+48_1050+49delinsCT
XM_011536796.2:c.942+48_942+49delinsCT	XP_011535098.1:n.942+48_942+49delinsCT
XM_017021335.2:c.1050+48_1050+49delinsCT	XP_016876824.1:n.1050+48_1050+49delinsCT
XM_017021337.2:c.1050+48_1050+49delinsCT	XP_016876826.1:n.1050+48_1050+49delinsCT
XR_429316.4:n.1176+48_1176+49delinsCT
NM_001080414.4:c.1050+48_1050+49delinsCT MANE Select	NP_001073883.2:n.1050+48_1050+49delinsCT