Canonical Allele Identifier: CA2626127136
Gene: CCDC88C HGNC NCBI

Linked Data

gnomAD v4: 14-91272639-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272640dup , CM000676.2:g.91272640dup GRCh38
NC_000014.8:g.91738984dup , CM000676.1:g.91738984dup GRCh37
NC_000014.7:g.90808737dup NCBI36
NG_033118.1:g.150205dup
NG_033118.2:g.150205dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6072dup MANE Select ENSP00000374507.6:p.Tyr2025ValfsTer15
ENST00000331194.8:c.1506dup ENSP00000330332.8:p.Tyr503ValfsTer15
ENST00000389857.10:c.6072dup ENSP00000374507.6:p.Tyr2025ValfsTer15
ENST00000556726.5:c.2300dup
NM_001080414.3:c.6072dup NP_001073883.2:p.Tyr2025ValfsTer15
XM_011536796.1:c.5964dup XP_011535098.1:p.Tyr1989ValfsTer15
XM_011536796.2:c.5964dup XP_011535098.1:p.Tyr1989ValfsTer15
XM_017021336.1:c.3153dup XP_016876825.1:p.Tyr1052ValfsTer15
NM_001080414.4:c.6072dup MANE Select NP_001073883.2:p.Tyr2025ValfsTer15
Search 100 bp 5'
Search 100 bp 3'