Canonical Allele Identifier: CA2154888336

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1891043770
• gnomAD v4: 14-91297190-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91297192_91297193del , CM000676.2:g.91297192_91297193del	GRCh38
NC_000014.8:g.91763536_91763537del , CM000676.1:g.91763536_91763537del	GRCh37
NC_000014.7:g.90833289_90833290del	NCBI36
NG_033118.1:g.125653_125654del
NG_033118.2:g.125653_125654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3966+113_3966+114del MANE Select	ENSP00000374507.6:n.3966+113_3966+114del
ENST00000389857.10:c.3966+113_3966+114del	ENSP00000374507.6:n.3966+113_3966+114del
NM_001080414.3:c.3966+113_3966+114del	NP_001073883.2:n.3966+113_3966+114del
XM_005267691.3:c.3966+113_3966+114del	XP_005267748.1:n.3966+113_3966+114del
XM_011536796.1:c.3858+113_3858+114del	XP_011535098.1:n.3858+113_3858+114del
XR_429316.2:n.4094+113_4094+114del
XR_943459.1:n.4094+113_4094+114del
XM_005267691.5:c.3966+113_3966+114del	XP_005267748.1:n.3966+113_3966+114del
XM_011536796.2:c.3858+113_3858+114del	XP_011535098.1:n.3858+113_3858+114del
XM_017021335.2:c.3966+113_3966+114del	XP_016876824.1:n.3966+113_3966+114del
XM_017021336.1:c.1047+113_1047+114del	XP_016876825.1:n.1047+113_1047+114del
XR_429316.4:n.4092+113_4092+114del
NM_001080414.4:c.3966+113_3966+114del MANE Select	NP_001073883.2:n.3966+113_3966+114del