Canonical Allele Identifier: CA7310032

Gene: CCDC88C

Linked Data

• dbSNP Id: rs761529047
• ExAC: 14:91804402 T / TCAGCTC
• gnomAD v2: 14-91804402-T-TCAGCTC
• gnomAD v4: 14-91338058-T-TCAGCTC
• MyVariant Identifiers: chr14:g.91804402_91804403insCAGCTC (hg19) ; chr14:g.91338058_91338059insCAGCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338069_91338074dup , CM000676.2:g.91338069_91338074dup	GRCh38
NC_000014.8:g.91804413_91804418dup , CM000676.1:g.91804413_91804418dup	GRCh37
NC_000014.7:g.90874166_90874171dup	NCBI36
NG_033118.1:g.84781_84786dup
NG_033118.2:g.84781_84786dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.991_996dup MANE Select	ENSP00000374507.6:p.Leu332_Thr333insGluLe...
ENST00000389857.10:c.991_996dup	ENSP00000374507.6:p.Leu332_Thr333insGluLe...
ENST00000554051.1:n.468_473dup
NM_001080414.3:c.991_996dup	NP_001073883.2:p.Leu332_Thr333insGluLeu
XM_005267691.3:c.991_996dup	XP_005267748.1:p.Leu332_Thr333insGluLeu
XM_011536796.1:c.883_888dup	XP_011535098.1:p.Leu296_Thr297insGluLeu
XR_429316.2:n.1119_1124dup
XR_943459.1:n.1119_1124dup
XM_005267691.5:c.991_996dup	XP_005267748.1:p.Leu332_Thr333insGluLeu
XM_011536796.2:c.883_888dup	XP_011535098.1:p.Leu296_Thr297insGluLeu
XM_017021335.2:c.991_996dup	XP_016876824.1:p.Leu332_Thr333insGluLeu
XM_017021337.2:c.991_996dup	XP_016876826.1:p.Leu332_Thr333insGluLeu
XR_429316.4:n.1117_1122dup
NM_001080414.4:c.991_996dup MANE Select	NP_001073883.2:p.Leu332_Thr333insGluLeu