Canonical Allele Identifier: CA778547222

Gene: CCDC178

Linked Data

• dbSNP Id: rs1270318149
• gnomAD v3: 18-32943347-C-CAAAT
• gnomAD v4: 18-32943347-C-CAAAT
• MyVariant Identifiers: chr18:g.30523311_30523312insAAAT (hg19) ; chr18:g.32943347_32943348insAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.32943348_32943351dup , CM000680.2:g.32943348_32943351dup	GRCh38
NC_000018.9:g.30523312_30523315dup , CM000680.1:g.30523312_30523315dup	GRCh37
NC_000018.8:g.28777310_28777313dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383096.8:c.2524-5260_2524-5257dup MANE Select	ENSP00000372576.3:n.2524-5260_2524-5257dup
ENST00000300227.12:c.2410-5260_2410-5257dup	ENSP00000300227.8:n.2410-5260_2410-5257dup
ENST00000383096.7:c.2524-5260_2524-5257dup	ENSP00000372576.3:n.2524-5260_2524-5257dup
ENST00000403303.5:c.2524-5260_2524-5257dup	ENSP00000385591.1:n.2524-5260_2524-5257dup
ENST00000406524.6:c.2596-5260_2596-5257dup	ENSP00000385867.2:n.2596-5260_2596-5257dup
ENST00000579916.5:c.484-5260_484-5257dup	ENSP00000462153.1:n.484-5260_484-5257dup
ENST00000581524.5:c.1015-5260_1015-5257dup	ENSP00000462651.1:n.1015-5260_1015-5257dup
ENST00000581852.5:c.139-5260_139-5257dup	ENSP00000464295.1:n.139-5260_139-5257dup
ENST00000583930.5:c.2596-5260_2596-5257dup	ENSP00000463254.1:n.2596-5260_2596-5257dup
NM_001105528.1:c.2524-5260_2524-5257dup	NP_001098998.1:n.2524-5260_2524-5257dup
NM_001308126.1:c.2596-5260_2596-5257dup	NP_001295055.1:n.2596-5260_2596-5257dup
NM_198995.2:c.2410-5260_2410-5257dup	NP_945346.2:n.2410-5260_2410-5257dup
XM_011525948.1:c.2524-5260_2524-5257dup	XP_011524250.1:n.2524-5260_2524-5257dup
XM_011525951.1:c.2374-5260_2374-5257dup	XP_011524253.1:n.2374-5260_2374-5257dup
XR_935363.1:n.179+5071_179+5074dup
XM_017025721.1:c.2596-5260_2596-5257dup	XP_016881210.1:n.2596-5260_2596-5257dup
XM_017025722.1:c.2596-5260_2596-5257dup	XP_016881211.1:n.2596-5260_2596-5257dup
XM_017025723.1:c.2596-5260_2596-5257dup	XP_016881212.1:n.2596-5260_2596-5257dup
XM_017025724.1:c.2110-5260_2110-5257dup	XP_016881213.1:n.2110-5260_2110-5257dup
XM_017025725.1:c.2110-5260_2110-5257dup	XP_016881214.1:n.2110-5260_2110-5257dup
XR_001753402.1:n.179+5071_179+5074dup
XR_935363.2:n.179+5071_179+5074dup
XR_935365.2:n.179+5071_179+5074dup
NM_001105528.3:c.2524-5260_2524-5257dup	NP_001098998.1:n.2524-5260_2524-5257dup
NM_001308126.3:c.2596-5260_2596-5257dup	NP_001295055.1:n.2596-5260_2596-5257dup
NM_001371120.1:c.2596-5260_2596-5257dup	NP_001358049.1:n.2596-5260_2596-5257dup
NM_001371121.1:c.2596-5260_2596-5257dup	NP_001358050.1:n.2596-5260_2596-5257dup
NM_198995.3:c.2410-5260_2410-5257dup	NP_945346.2:n.2410-5260_2410-5257dup
NM_001105528.4:c.2524-5260_2524-5257dup MANE Select	NP_001098998.1:n.2524-5260_2524-5257dup