Canonical Allele Identifier: CA919477243
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1555413246
gnomAD v4: 14-91272379-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272382del , CM000676.2:g.91272382del GRCh38
NC_000014.8:g.91738726del , CM000676.1:g.91738726del GRCh37
NC_000014.7:g.90808479del NCBI36
NG_033118.1:g.150465del
NG_033118.2:g.150465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*245del MANE Select ENSP00000374507.6:n.*245del
ENST00000331194.8:c.*245del ENSP00000330332.8:n.*245del
ENST00000389857.10:c.*245del ENSP00000374507.6:n.*245del
ENST00000556726.5:c.2560del
NM_001080414.3:c.*245del NP_001073883.2:n.*245del
XM_011536796.1:c.*245del XP_011535098.1:n.*245del
XM_011536796.2:c.*245del XP_011535098.1:n.*245del
XM_017021336.1:c.*245del XP_016876825.1:n.*245del
NM_001080414.4:c.*245del MANE Select NP_001073883.2:n.*245del
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