Canonical Allele Identifier: CA709867359

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1256897059
• gnomAD v4: 14-91279111-GC-G
• MyVariant Identifiers: chr14:g.91745456del (hg19) ; chr14:g.91279112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279112del , CM000676.2:g.91279112del	GRCh38
NC_000014.8:g.91745456del , CM000676.1:g.91745456del	GRCh37
NC_000014.7:g.90815209del	NCBI36
NG_033118.1:g.143733del
NG_033118.2:g.143733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+126del MANE Select	ENSP00000374507.6:n.4768+126del
ENST00000331194.8:c.340+126del	ENSP00000330332.8:n.340+126del
ENST00000334448.5:n.580+126del
ENST00000389857.10:c.4768+126del	ENSP00000374507.6:n.4768+126del
ENST00000556726.5:c.996+126del
ENST00000557455.1:n.740+126del
NM_001080414.3:c.4768+126del	NP_001073883.2:n.4768+126del
XM_011536796.1:c.4660+126del	XP_011535098.1:n.4660+126del
XR_429316.2:n.5043+126del
XM_011536796.2:c.4660+126del	XP_011535098.1:n.4660+126del
XM_017021336.1:c.1849+126del	XP_016876825.1:n.1849+126del
XR_429316.4:n.5041+126del
NM_001080414.4:c.4768+126del MANE Select	NP_001073883.2:n.4768+126del