Canonical Allele Identifier: CA2154902501
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273485_91273486delinsTC , CM000676.2:g.91273485_91273486delinsTC GRCh38
NC_000014.8:g.91739829_91739830delinsTC , CM000676.1:g.91739829_91739830delinsTC GRCh37
NC_000014.7:g.90809582_90809583delinsTC NCBI36
NG_033118.1:g.149359_149360delinsGA
NG_033118.2:g.149359_149360delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5226_5227delinsGA MANE Select ENSP00000374507.6:p.Gly1742=
ENST00000331194.8:c.798_799delinsGA ENSP00000330332.8:p.Gly266=
ENST00000334448.5:n.1038_1039delinsGA
ENST00000389857.10:c.5226_5227delinsGA ENSP00000374507.6:p.Gly1742=
ENST00000556726.5:c.1454_1455delinsGA
NM_001080414.3:c.5226_5227delinsGA NP_001073883.2:p.Gly1742=
XM_011536796.1:c.5118_5119delinsGA XP_011535098.1:p.Gly1706=
XR_429316.2:n.5501_5502delinsGA
XM_011536796.2:c.5118_5119delinsGA XP_011535098.1:p.Gly1706=
XM_017021336.1:c.2307_2308delinsGA XP_016876825.1:p.Gly769=
XR_429316.4:n.5499_5500delinsGA
NM_001080414.4:c.5226_5227delinsGA MANE Select NP_001073883.2:p.Gly1742=