Canonical Allele Identifier: CA2626126687

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272345-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272345_91272346insAAA , CM000676.2:g.91272345_91272346insAAA	GRCh38
NC_000014.8:g.91738689_91738690insAAA , CM000676.1:g.91738689_91738690insAAA	GRCh37
NC_000014.7:g.90808442_90808443insAAA	NCBI36
NG_033118.1:g.150499_150500insTTT
NG_033118.2:g.150499_150500insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*279_*280insTTT MANE Select	ENSP00000374507.6:n.*279_*280insTTT
ENST00000331194.8:c.*279_*280insTTT	ENSP00000330332.8:n.*279_*280insTTT
ENST00000389857.10:c.*279_*280insTTT	ENSP00000374507.6:n.*279_*280insTTT
ENST00000556726.5:c.2594_2595insTTT
NM_001080414.3:c.*279_*280insTTT	NP_001073883.2:n.*279_*280insTTT
XM_011536796.1:c.*279_*280insTTT	XP_011535098.1:n.*279_*280insTTT
XM_011536796.2:c.*279_*280insTTT	XP_011535098.1:n.*279_*280insTTT
XM_017021336.1:c.*279_*280insTTT	XP_016876825.1:n.*279_*280insTTT
NM_001080414.4:c.*279_*280insTTT MANE Select	NP_001073883.2:n.*279_*280insTTT