Canonical Allele Identifier: CA616112336

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1263299954
• gnomAD v2: 14-91804300-AG-A
• MyVariant Identifiers: chr14:g.91804301del (hg19) ; chr14:g.91337957del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91337958del , CM000676.2:g.91337958del	GRCh38
NC_000014.8:g.91804302del , CM000676.1:g.91804302del	GRCh37
NC_000014.7:g.90874055del	NCBI36
NG_033118.1:g.84888del
NG_033118.2:g.84888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.1050+48del MANE Select	ENSP00000374507.6:n.1050+48del
ENST00000389857.10:c.1050+48del	ENSP00000374507.6:n.1050+48del
NM_001080414.3:c.1050+48del	NP_001073883.2:n.1050+48del
XM_005267691.3:c.1050+48del	XP_005267748.1:n.1050+48del
XM_011536796.1:c.942+48del	XP_011535098.1:n.942+48del
XR_429316.2:n.1178+48del
XR_943459.1:n.1178+48del
XM_005267691.5:c.1050+48del	XP_005267748.1:n.1050+48del
XM_011536796.2:c.942+48del	XP_011535098.1:n.942+48del
XM_017021335.2:c.1050+48del	XP_016876824.1:n.1050+48del
XM_017021337.2:c.1050+48del	XP_016876826.1:n.1050+48del
XR_429316.4:n.1176+48del
NM_001080414.4:c.1050+48del MANE Select	NP_001073883.2:n.1050+48del