Canonical Allele Identifier: CA2626126693

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272347-C-CAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272348_91272349insAAAAA , CM000676.2:g.91272348_91272349insAAAAA	GRCh38
NC_000014.8:g.91738692_91738693insAAAAA , CM000676.1:g.91738692_91738693insAAAAA	GRCh37
NC_000014.7:g.90808445_90808446insAAAAA	NCBI36
NG_033118.1:g.150497_150498insTTTTT
NG_033118.2:g.150497_150498insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*277_*278insTTTTT MANE Select	ENSP00000374507.6:n.*277_*278insTTTTT
ENST00000331194.8:c.*277_*278insTTTTT	ENSP00000330332.8:n.*277_*278insTTTTT
ENST00000389857.10:c.*277_*278insTTTTT	ENSP00000374507.6:n.*277_*278insTTTTT
ENST00000556726.5:c.2592_2593insTTTTT
NM_001080414.3:c.*277_*278insTTTTT	NP_001073883.2:n.*277_*278insTTTTT
XM_011536796.1:c.*277_*278insTTTTT	XP_011535098.1:n.*277_*278insTTTTT
XM_011536796.2:c.*277_*278insTTTTT	XP_011535098.1:n.*277_*278insTTTTT
XM_017021336.1:c.*277_*278insTTTTT	XP_016876825.1:n.*277_*278insTTTTT
NM_001080414.4:c.*277_*278insTTTTT MANE Select	NP_001073883.2:n.*277_*278insTTTTT