Canonical Allele Identifier: CA965930180

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1891522367
• gnomAD v3: 14-91305630-TTA-T
• gnomAD v4: 14-91305630-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305631_91305632del , CM000676.2:g.91305631_91305632del	GRCh38
NC_000014.8:g.91771975_91771976del , CM000676.1:g.91771975_91771976del	GRCh37
NC_000014.7:g.90841728_90841729del	NCBI36
NG_033118.1:g.117213_117214del
NG_033118.2:g.117213_117214del

Transcript Alleles

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