Canonical Allele Identifier: CA2626125095

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279118-TCTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279121_91279124del , CM000676.2:g.91279121_91279124del	GRCh38
NC_000014.8:g.91745465_91745468del , CM000676.1:g.91745465_91745468del	GRCh37
NC_000014.7:g.90815218_90815221del	NCBI36
NG_033118.1:g.143723_143726del
NG_033118.2:g.143723_143726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+116_4768+119del MANE Select	ENSP00000374507.6:n.4768+116_4768+119del
ENST00000331194.8:c.340+116_340+119del	ENSP00000330332.8:n.340+116_340+119del
ENST00000334448.5:n.580+116_580+119del
ENST00000389857.10:c.4768+116_4768+119del	ENSP00000374507.6:n.4768+116_4768+119del
ENST00000556726.5:c.996+116_996+119del
ENST00000557455.1:n.740+116_740+119del
NM_001080414.3:c.4768+116_4768+119del	NP_001073883.2:n.4768+116_4768+119del
XM_011536796.1:c.4660+116_4660+119del	XP_011535098.1:n.4660+116_4660+119del
XR_429316.2:n.5043+116_5043+119del
XM_011536796.2:c.4660+116_4660+119del	XP_011535098.1:n.4660+116_4660+119del
XM_017021336.1:c.1849+116_1849+119del	XP_016876825.1:n.1849+116_1849+119del
XR_429316.4:n.5041+116_5041+119del
NM_001080414.4:c.4768+116_4768+119del MANE Select	NP_001073883.2:n.4768+116_4768+119del