Canonical Allele Identifier: CA343817
Gene: DNAAF11 HGNC NCBI

Linked Data

ClinVar Variation Id: 39796
ClinVar RCV Id: RCV000033018
dbSNP Id: rs397515425

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132632818dup , CM000670.2:g.132632818dup GRCh38
NC_000008.10:g.133645064dup , CM000670.1:g.133645064dup GRCh37
NC_000008.9:g.133714246dup NCBI36
NG_033068.1:g.47801dup

Transcript Alleles

HGVS Amino-acid change
ENST00000620350.5:c.576dup MANE Select ENSP00000484634.1:p.Glu193ArgfsTer4
ENST00000250173.5:c.576dup ENSP00000250173.2:p.Glu193ArgfsTer4
ENST00000518642.5:c.576dup ENSP00000428610.1:p.Glu193ArgfsTer4
ENST00000519595.5:c.576dup ENSP00000429791.1:p.Glu193ArgfsTer4
ENST00000520446.5:n.528+5118dup
ENST00000523503.1:n.415+5118dup
ENST00000618342.1:c.576dup ENSP00000484802.1:p.Glu193ArgfsTer4
ENST00000620350.4:c.576dup ENSP00000484634.1:p.Glu193ArgfsTer4
NM_012472.4:c.576dup NP_036604.2:p.Glu193ArgfsTer4
NR_073525.1:n.700dup
XM_006716538.2:c.594dup XP_006716601.2:p.Glu199ArgfsTer4
XM_011516950.1:c.594dup XP_011515252.1:p.Glu199ArgfsTer4
XM_011516951.1:c.594dup XP_011515253.1:p.Glu199ArgfsTer4
XM_011516952.1:c.330dup XP_011515254.1:p.Glu111ArgfsTer4
XM_011516953.1:c.216dup XP_011515255.1:p.Glu73ArgfsTer4
XM_011516954.1:c.216dup XP_011515256.1:p.Glu73ArgfsTer4
XR_428377.2:n.719dup
NM_001321961.1:c.576dup NP_001308890.1:p.Glu193ArgfsTer4
NM_001321962.1:c.330dup NP_001308891.1:p.Glu111ArgfsTer4
NM_001321963.1:c.216dup NP_001308892.1:p.Glu73ArgfsTer4
NM_001321964.1:c.216dup NP_001308893.1:p.Glu73ArgfsTer4
NM_001321965.1:c.216dup NP_001308894.1:p.Glu73ArgfsTer4
NM_001321966.1:c.216dup NP_001308895.1:p.Glu73ArgfsTer4
NM_012472.5:c.576dup NP_036604.2:p.Glu193ArgfsTer4
NR_073525.2:n.700dup
NR_135905.1:n.866+5118dup
NR_135906.1:n.307+5118dup
NR_135907.1:n.553+5118dup
NR_135908.1:n.307+5118dup
NR_135909.1:n.671+5118dup
NR_135910.1:n.978+5118dup
NR_135911.1:n.1057+5118dup
NR_135912.1:n.1616+5118dup
NR_135913.1:n.1303+5118dup
XM_006716538.3:c.594dup XP_006716601.2:p.Glu199ArgfsTer4
XM_011516950.2:c.594dup XP_011515252.1:p.Glu199ArgfsTer4
XM_017013296.1:c.474dup XP_016868785.1:p.Glu159ArgfsTer4
XM_017013297.1:c.216dup XP_016868786.1:p.Glu73ArgfsTer4
XM_017013298.1:c.216dup XP_016868787.1:p.Glu73ArgfsTer4
NM_012472.6:c.576dup MANE Select NP_036604.2:p.Glu193ArgfsTer4
NM_001321961.2:c.576dup NP_001308890.1:p.Glu193ArgfsTer4
NM_001321962.2:c.330dup NP_001308891.1:p.Glu111ArgfsTer4
NM_001321963.2:c.216dup NP_001308892.1:p.Glu73ArgfsTer4
NM_001321964.2:c.216dup NP_001308893.1:p.Glu73ArgfsTer4
NM_001321965.2:c.216dup NP_001308894.1:p.Glu73ArgfsTer4
NM_001321966.2:c.216dup NP_001308895.1:p.Glu73ArgfsTer4
NR_073525.3:n.628dup
NR_135905.2:n.794+5118dup
NR_135906.2:n.235+5118dup
NR_135907.2:n.481+5118dup
NR_135908.2:n.235+5118dup
NR_135909.2:n.691+5118dup
NR_135910.2:n.1041+5118dup
NR_135911.2:n.1161+5118dup
NR_135912.2:n.1720+5118dup
NR_135913.2:n.1407+5118dup