Canonical Allele Identifier: CA2154878481

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313214_91313217delinsCCTT , CM000676.2:g.91313214_91313217delinsCCTT	GRCh38
NC_000014.8:g.91779558_91779561delinsCCTT , CM000676.1:g.91779558_91779561delinsCCTT	GRCh37
NC_000014.7:g.90849311_90849314delinsCCTT	NCBI36
NG_033118.1:g.109628_109631delinsAAGG
NG_033118.2:g.109628_109631delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2599_2602delinsAAGG MANE Select	ENSP00000374507.6:p.Lys867=
ENST00000389857.10:c.2599_2602delinsAAGG	ENSP00000374507.6:p.Lys867=
NM_001080414.3:c.2599_2602delinsAAGG	NP_001073883.2:p.Lys867=
XM_005267691.3:c.2599_2602delinsAAGG	XP_005267748.1:p.Lys867=
XM_011536796.1:c.2491_2494delinsAAGG	XP_011535098.1:p.Lys831=
XR_429316.2:n.2727_2730delinsAAGG
XR_943459.1:n.2727_2730delinsAAGG
XM_005267691.5:c.2599_2602delinsAAGG	XP_005267748.1:p.Lys867=
XM_011536796.2:c.2491_2494delinsAAGG	XP_011535098.1:p.Lys831=
XM_017021335.2:c.2599_2602delinsAAGG	XP_016876824.1:p.Lys867=
XM_017021337.2:c.2599_2602delinsAAGG	XP_016876826.1:p.Lys867=
XR_429316.4:n.2725_2728delinsAAGG
NM_001080414.4:c.2599_2602delinsAAGG MANE Select	NP_001073883.2:p.Lys867=