Canonical Allele Identifier: CA1107186789

Gene: CEP41

Linked Data

• dbSNP Id: rs1796626196
• gnomAD v3: 7-130395294-G-GT
• gnomAD v4: 7-130395294-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130395295dup , CM000669.2:g.130395295dup	GRCh38
NC_000007.13:g.130035136dup , CM000669.1:g.130035136dup	GRCh37
NC_000007.12:g.129822372dup	NCBI36
NG_032164.1:g.50916dup
NG_032164.2:g.50916dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000223208.10:c.*3596dup MANE Select	ENSP00000223208.4:n.*3596dup
ENST00000541543.6:c.*3596dup	ENSP00000445888.2:n.*3596dup
ENST00000675649.1:c.*3596dup	ENSP00000502385.1:n.*3596dup
ENST00000223208.9:c.*3596dup	ENSP00000223208.4:n.*3596dup
ENST00000541543.5:c.*3596dup	ENSP00000445888.1:n.*3596dup
NM_001257158.1:c.*3596dup	NP_001244087.1:n.*3596dup
NM_001257159.1:c.*3596dup	NP_001244088.1:n.*3596dup
NM_018718.2:c.*3596dup	NP_061188.1:n.*3596dup
NR_046443.1:n.4886dup
NM_018718.3:c.*3596dup MANE Select	NP_061188.1:n.*3596dup
NM_001257158.2:c.*3596dup	NP_001244087.1:n.*3596dup
NR_046443.2:n.4692dup
NM_001257159.2:c.*3596dup	NP_001244088.1:n.*3596dup