Canonical Allele Identifier: CA517652
Community Standard Title: NM_017871.6(INTS11):c.936dup (p.Ala313CysfsTer2)
Gene: INTS11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1313756dup , CM000663.2:g.1313756dup GRCh38
NC_000001.10:g.1249136dup , CM000663.1:g.1249136dup GRCh37
NC_000001.9:g.1238999dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017871.6:c.936dup MANE Select NP_060341.2:p.Ala313CysfsTer2
ENST00000435064.6:c.936dup MANE Select ENSP00000413493.2:p.Ala313CysfsTer2
NM_001256456.1:c.954dup NP_001243385.1:p.Ala319CysfsTer2
NM_001256456.2:c.954dup NP_001243385.1:p.Ala319CysfsTer2
NM_001256460.1:c.849dup NP_001243389.1:p.Ala284CysfsTer2
NM_001256460.2:c.849dup NP_001243389.1:p.Ala284CysfsTer2
NM_001256462.1:c.642dup NP_001243391.1:p.Ala215CysfsTer2
NM_001256462.2:c.642dup NP_001243391.1:p.Ala215CysfsTer2
NM_001256463.1:c.633dup NP_001243392.1:p.Ala212CysfsTer2
NM_001256463.2:c.633dup NP_001243392.1:p.Ala212CysfsTer2
NM_017871.5:c.936dup NP_060341.2:p.Ala313CysfsTer2
ENST00000323275.10:n.1324dup
ENST00000411962.5:c.642dup ENSP00000400548.1:p.Ala215CysfsTer2
ENST00000419704.5:c.633dup ENSP00000404886.1:p.Ala212CysfsTer2
ENST00000421495.6:c.162dup ENSP00000464436.1:p.Ala55CysfsTer2
ENST00000434694.6:c.1026dup ENSP00000411233.2:p.Ala343CysfsTer2
ENST00000435064.5:c.936dup ENSP00000413493.1:p.Ala313CysfsTer2
ENST00000450926.6:c.870dup ENSP00000392848.2:p.Ala291CysfsTer2
ENST00000458452.7:c.*1220dup ENSP00000433930.1:n.*1220dup
ENST00000461514.6:n.28dup
ENST00000462432.5:n.1801dup
ENST00000467408.6:n.571dup
ENST00000470030.6:n.844dup
ENST00000478641.5:n.1418dup
ENST00000485710.5:n.73dup
ENST00000525164.5:n.13dup
ENST00000527098.5:c.*764dup ENSP00000431952.1:n.*764dup
ENST00000527383.5:c.462dup
ENST00000528879.5:c.*34dup ENSP00000432777.1:n.*34dup
ENST00000531292.5:n.533dup
ENST00000531377.5:c.458dup ENSP00000433264.1:n.458dup
ENST00000532772.5:c.*358dup ENSP00000431214.1:n.*358dup
ENST00000540437.5:c.954dup ENSP00000445001.1:p.Ala319CysfsTer2
ENST00000545578.5:c.849dup ENSP00000444672.1:p.Ala284CysfsTer2
ENST00000618806.4:c.576dup ENSP00000480957.1:p.Ala193CysfsTer2
ENST00000620829.4:c.642dup ENSP00000481821.1:p.Ala215CysfsTer2
XM_011541647.1:c.1116dup XP_011539949.1:p.Ala373CysfsTer2
XM_011541648.1:c.1002dup XP_011539950.1:p.Ala335CysfsTer2
XM_011541649.1:c.1116dup XP_011539951.1:p.Ala373CysfsTer2
XM_011541650.1:c.564dup XP_011539952.1:p.Ala189CysfsTer2
XM_011541650.2:c.564dup XP_011539952.1:p.Ala189CysfsTer2
XM_017001557.1:c.564dup XP_016857046.1:p.Ala189CysfsTer2
XM_017001558.1:c.564dup XP_016857047.1:p.Ala189CysfsTer2
XR_426614.2:n.507dup