Canonical Allele Identifier: CA709883373

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1255182657
• gnomAD v3: 14-91312936-TA-T
• gnomAD v4: 14-91312936-TA-T
• MyVariant Identifiers: chr14:g.91779281del (hg19) ; chr14:g.91312937del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91312937del , CM000676.2:g.91312937del	GRCh38
NC_000014.8:g.91779281del , CM000676.1:g.91779281del	GRCh37
NC_000014.7:g.90849034del	NCBI36
NG_033118.1:g.109908del
NG_033118.2:g.109908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2736+143del MANE Select	ENSP00000374507.6:n.2736+143del
ENST00000389857.10:c.2736+143del	ENSP00000374507.6:n.2736+143del
NM_001080414.3:c.2736+143del	NP_001073883.2:n.2736+143del
XM_005267691.3:c.2736+143del	XP_005267748.1:n.2736+143del
XM_011536796.1:c.2628+143del	XP_011535098.1:n.2628+143del
XR_429316.2:n.2864+143del
XR_943459.1:n.2864+143del
XM_005267691.5:c.2736+143del	XP_005267748.1:n.2736+143del
XM_011536796.2:c.2628+143del	XP_011535098.1:n.2628+143del
XM_017021335.2:c.2736+143del	XP_016876824.1:n.2736+143del
XM_017021336.1:c.-56+143del	XP_016876825.1:n.-56+143del
XM_017021337.2:c.2736+143del	XP_016876826.1:n.2736+143del
XR_429316.4:n.2862+143del
NM_001080414.4:c.2736+143del MANE Select	NP_001073883.2:n.2736+143del