Canonical Allele Identifier: CA2154899959
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1814363691

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272641_91272642insAT , CM000676.2:g.91272641_91272642insAT GRCh38
NC_000014.8:g.91738985_91738986insAT , CM000676.1:g.91738985_91738986insAT GRCh37
NC_000014.7:g.90808738_90808739insAT NCBI36
NG_033118.1:g.150204_150205insTA
NG_033118.2:g.150204_150205insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6071_6072insTA MANE Select ENSP00000374507.6:p.Glu2024AspfsTer?
ENST00000331194.8:c.1505_1506insTA ENSP00000330332.8:p.Glu502AspfsTer?
ENST00000389857.10:c.6071_6072insTA ENSP00000374507.6:p.Glu2024AspfsTer?
ENST00000556726.5:c.2299_2300insTA
NM_001080414.3:c.6071_6072insTA NP_001073883.2:p.Glu2024AspfsTer?
XM_011536796.1:c.5963_5964insTA XP_011535098.1:p.Glu1988AspfsTer?
XM_011536796.2:c.5963_5964insTA XP_011535098.1:p.Glu1988AspfsTer?
XM_017021336.1:c.3152_3153insTA XP_016876825.1:p.Glu1051AspfsTer?
NM_001080414.4:c.6071_6072insTA MANE Select NP_001073883.2:p.Glu2024AspfsTer?