Canonical Allele Identifier: CA130650

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272870_91272871del , CM000676.2:g.91272870_91272871del	GRCh38
NC_000014.8:g.91739214_91739215del , CM000676.1:g.91739214_91739215del	GRCh37
NC_000014.7:g.90808967_90808968del	NCBI36
NG_033118.1:g.149974_149975del
NG_033118.2:g.149974_149975del

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.5841_5842del MANE Select	NP_001073883.2:p.Glu1949GlyfsTer26
ENST00000389857.11:c.5841_5842del MANE Select	ENSP00000374507.6:p.Glu1949GlyfsTer26
NM_001080414.3:c.5841_5842del	NP_001073883.2:p.Glu1949GlyfsTer26
ENST00000331194.8:c.1275_1276del	ENSP00000330332.8:p.Glu427GlyfsTer26
ENST00000389857.10:c.5841_5842del	ENSP00000374507.6:p.Glu1949GlyfsTer26
ENST00000556726.5:c.2069_2070del
XM_011536796.1:c.5733_5734del	XP_011535098.1:p.Glu1913GlyfsTer26
XM_011536796.2:c.5733_5734del	XP_011535098.1:p.Glu1913GlyfsTer26
XM_017021336.1:c.2922_2923del	XP_016876825.1:p.Glu976GlyfsTer26