Canonical Allele Identifier: CA2161176
Community Standard Title: NM_005381.3(NCL):c.1706-10dup
Gene: NCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.231456154dup , CM000664.2:g.231456154dup GRCh38
NC_000002.11:g.232320865dup , CM000664.1:g.232320865dup GRCh37
NC_000002.10:g.232029109dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005381.3:c.1706-10dup MANE Select NP_005372.2:n.1706-10dup
ENST00000322723.9:c.1706-10dup MANE Select ENSP00000318195.4:n.1706-10dup
NM_005381.2:c.1706-10dup NP_005372.2:n.1706-10dup
ENST00000322723.8:c.1706-10dup ENSP00000318195.4:n.1706-10dup
ENST00000356936.5:c.581-10dup ENSP00000349410.5:n.581-10dup
ENST00000356936.6:c.1778-10dup ENSP00000349410.6:n.1778-10dup
ENST00000417652.6:c.1658-10dup ENSP00000392747.2:n.1658-10dup
ENST00000436894.2:c.1658-10dup ENSP00000401322.2:n.1658-10dup
ENST00000453992.6:c.1658-10dup ENSP00000413775.2:n.1658-10dup
ENST00000454824.6:c.1658-10dup ENSP00000401620.2:n.1658-10dup
ENST00000461347.5:n.3257-10dup
ENST00000466274.1:n.545-10dup
ENST00000676514.1:n.2355dup
ENST00000676690.1:c.1706-10dup ENSP00000504613.1:n.1706-10dup
ENST00000676798.1:n.2389-10dup
ENST00000676913.1:c.1706-10dup ENSP00000503098.1:n.1706-10dup
ENST00000677703.1:n.1398-10dup
ENST00000677786.1:n.3269-10dup
ENST00000678131.1:c.1706-242dup ENSP00000504385.1:n.1706-242dup
ENST00000678246.1:c.1706-10dup ENSP00000503707.1:n.1706-10dup
ENST00000678364.1:c.1424-10dup ENSP00000504707.1:n.1424-10dup
ENST00000678405.1:c.1719dup ENSP00000503250.1:p.Pro574SerfsTer?
ENST00000678729.1:n.3498-10dup
ENST00000678828.1:c.1661-10dup ENSP00000503432.1:n.1661-10dup
ENST00000678849.1:c.*767-10dup ENSP00000503057.1:n.*767-10dup
ENST00000679348.1:c.1658-10dup ENSP00000504694.1:n.1658-10dup