Canonical Allele Identifier: CA989019268

Gene: CCDC178

Linked Data

• dbSNP Id: rs2054279158
• gnomAD v3: 18-32943315-TAAAG-T
• gnomAD v4: 18-32943315-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.32943319_32943322del , CM000680.2:g.32943319_32943322del	GRCh38
NC_000018.9:g.30523283_30523286del , CM000680.1:g.30523283_30523286del	GRCh37
NC_000018.8:g.28777281_28777284del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383096.8:c.2524-5228_2524-5225del MANE Select	ENSP00000372576.3:n.2524-5228_2524-5225del
ENST00000300227.12:c.2410-5228_2410-5225del	ENSP00000300227.8:n.2410-5228_2410-5225del
ENST00000383096.7:c.2524-5228_2524-5225del	ENSP00000372576.3:n.2524-5228_2524-5225del
ENST00000403303.5:c.2524-5228_2524-5225del	ENSP00000385591.1:n.2524-5228_2524-5225del
ENST00000406524.6:c.2596-5228_2596-5225del	ENSP00000385867.2:n.2596-5228_2596-5225del
ENST00000579916.5:c.484-5228_484-5225del	ENSP00000462153.1:n.484-5228_484-5225del
ENST00000581524.5:c.1015-5228_1015-5225del	ENSP00000462651.1:n.1015-5228_1015-5225del
ENST00000581852.5:c.139-5228_139-5225del	ENSP00000464295.1:n.139-5228_139-5225del
ENST00000583930.5:c.2596-5228_2596-5225del	ENSP00000463254.1:n.2596-5228_2596-5225del
NM_001105528.1:c.2524-5228_2524-5225del	NP_001098998.1:n.2524-5228_2524-5225del
NM_001308126.1:c.2596-5228_2596-5225del	NP_001295055.1:n.2596-5228_2596-5225del
NM_198995.2:c.2410-5228_2410-5225del	NP_945346.2:n.2410-5228_2410-5225del
XM_011525948.1:c.2524-5228_2524-5225del	XP_011524250.1:n.2524-5228_2524-5225del
XM_011525951.1:c.2374-5228_2374-5225del	XP_011524253.1:n.2374-5228_2374-5225del
XR_935363.1:n.179+5042_179+5045del
XM_017025721.1:c.2596-5228_2596-5225del	XP_016881210.1:n.2596-5228_2596-5225del
XM_017025722.1:c.2596-5228_2596-5225del	XP_016881211.1:n.2596-5228_2596-5225del
XM_017025723.1:c.2596-5228_2596-5225del	XP_016881212.1:n.2596-5228_2596-5225del
XM_017025724.1:c.2110-5228_2110-5225del	XP_016881213.1:n.2110-5228_2110-5225del
XM_017025725.1:c.2110-5228_2110-5225del	XP_016881214.1:n.2110-5228_2110-5225del
XR_001753402.1:n.179+5042_179+5045del
XR_935363.2:n.179+5042_179+5045del
XR_935365.2:n.179+5042_179+5045del
NM_001105528.3:c.2524-5228_2524-5225del	NP_001098998.1:n.2524-5228_2524-5225del
NM_001308126.3:c.2596-5228_2596-5225del	NP_001295055.1:n.2596-5228_2596-5225del
NM_001371120.1:c.2596-5228_2596-5225del	NP_001358049.1:n.2596-5228_2596-5225del
NM_001371121.1:c.2596-5228_2596-5225del	NP_001358050.1:n.2596-5228_2596-5225del
NM_198995.3:c.2410-5228_2410-5225del	NP_945346.2:n.2410-5228_2410-5225del
NM_001105528.4:c.2524-5228_2524-5225del MANE Select	NP_001098998.1:n.2524-5228_2524-5225del