Canonical Allele Identifier: CA2154899986
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272662_91272663delinsTC , CM000676.2:g.91272662_91272663delinsTC GRCh38
NC_000014.8:g.91739006_91739007delinsTC , CM000676.1:g.91739006_91739007delinsTC GRCh37
NC_000014.7:g.90808759_90808760delinsTC NCBI36
NG_033118.1:g.150182_150183delinsGA
NG_033118.2:g.150182_150183delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6049_6050delinsGA MANE Select ENSP00000374507.6:p.Asp2017=
ENST00000331194.8:c.1483_1484delinsGA ENSP00000330332.8:p.Asp495=
ENST00000389857.10:c.6049_6050delinsGA ENSP00000374507.6:p.Asp2017=
ENST00000556726.5:c.2277_2278delinsGA
NM_001080414.3:c.6049_6050delinsGA NP_001073883.2:p.Asp2017=
XM_011536796.1:c.5941_5942delinsGA XP_011535098.1:p.Asp1981=
XM_011536796.2:c.5941_5942delinsGA XP_011535098.1:p.Asp1981=
XM_017021336.1:c.3130_3131delinsGA XP_016876825.1:p.Asp1044=
NM_001080414.4:c.6049_6050delinsGA MANE Select NP_001073883.2:p.Asp2017=