Canonical Allele Identifier: CA658658267
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 447024
ClinVar RCV Id: RCV000517187 RCV003718253
dbSNP Id: rs1555413299
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272736_91272737delinsAG , CM000676.2:g.91272736_91272737delinsAG GRCh38
NC_000014.8:g.91739080_91739081delinsAG , CM000676.1:g.91739080_91739081delinsAG GRCh37
NC_000014.7:g.90808833_90808834delinsAG NCBI36
NG_033118.1:g.150108_150109delinsCT
NG_033118.2:g.150108_150109delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5975_5976delinsCT MANE Select ENSP00000374507.6:p.Leu1992Pro
ENST00000331194.8:c.1409_1410delinsCT ENSP00000330332.8:p.Leu470Pro
ENST00000389857.10:c.5975_5976delinsCT ENSP00000374507.6:p.Leu1992Pro
ENST00000556726.5:c.2203_2204delinsCT
NM_001080414.3:c.5975_5976delinsCT NP_001073883.2:p.Leu1992Pro
XM_011536796.1:c.5867_5868delinsCT XP_011535098.1:p.Leu1956Pro
XM_011536796.2:c.5867_5868delinsCT XP_011535098.1:p.Leu1956Pro
XM_017021336.1:c.3056_3057delinsCT XP_016876825.1:p.Leu1019Pro
NM_001080414.4:c.5975_5976delinsCT MANE Select NP_001073883.2:p.Leu1992Pro
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