Canonical Allele Identifier: CA2626131551

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91305631-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305631_91305632insTA , CM000676.2:g.91305631_91305632insTA	GRCh38
NC_000014.8:g.91771975_91771976insTA , CM000676.1:g.91771975_91771976insTA	GRCh37
NC_000014.7:g.90841728_90841729insTA	NCBI36
NG_033118.1:g.117213_117214insTA
NG_033118.2:g.117213_117214insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3357+133_3357+134insTA MANE Select	ENSP00000374507.6:n.3357+133_3357+134insTA
ENST00000389857.10:c.3357+133_3357+134insTA	ENSP00000374507.6:n.3357+133_3357+134insTA
NM_001080414.3:c.3357+133_3357+134insTA	NP_001073883.2:n.3357+133_3357+134insTA
XM_005267691.3:c.3357+133_3357+134insTA	XP_005267748.1:n.3357+133_3357+134insTA
XM_011536796.1:c.3249+133_3249+134insTA	XP_011535098.1:n.3249+133_3249+134insTA
XR_429316.2:n.3485+133_3485+134insTA
XR_943459.1:n.3485+133_3485+134insTA
XM_005267691.5:c.3357+133_3357+134insTA	XP_005267748.1:n.3357+133_3357+134insTA
XM_011536796.2:c.3249+133_3249+134insTA	XP_011535098.1:n.3249+133_3249+134insTA
XM_017021335.2:c.3357+133_3357+134insTA	XP_016876824.1:n.3357+133_3357+134insTA
XM_017021336.1:c.438+133_438+134insTA	XP_016876825.1:n.438+133_438+134insTA
XR_429316.4:n.3483+133_3483+134insTA
NM_001080414.4:c.3357+133_3357+134insTA MANE Select	NP_001073883.2:n.3357+133_3357+134insTA