Canonical Allele Identifier: CA1119376149

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1820953351
• gnomAD v3: 8-132632949-TTTACCATCCAA-T
• gnomAD v4: 8-132632949-TTTACCATCCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132632950_132632960del , CM000670.2:g.132632950_132632960del	GRCh38
NC_000008.10:g.133645196_133645206del , CM000670.1:g.133645196_133645206del	GRCh37
NC_000008.9:g.133714378_133714388del	NCBI36
NG_033068.1:g.47658_47668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.433_443del MANE Select	ENSP00000484634.1:p.Leu145ArgfsTer9
ENST00000250173.5:c.433_443del	ENSP00000250173.2:p.Leu145ArgfsTer9
ENST00000518642.5:c.433_443del	ENSP00000428610.1:p.Leu145ArgfsTer9
ENST00000519595.5:c.433_443del	ENSP00000429791.1:p.Leu145ArgfsTer9
ENST00000520446.5:n.528+4975_528+4985del
ENST00000523503.1:n.415+4975_415+4985del
ENST00000618342.1:c.433_443del	ENSP00000484802.1:p.Leu145ArgfsTer9
ENST00000620350.4:c.433_443del	ENSP00000484634.1:p.Leu145ArgfsTer9
NM_012472.4:c.433_443del	NP_036604.2:p.Leu145ArgfsTer9
NR_073525.1:n.557_567del
XM_006716538.2:c.451_461del	XP_006716601.2:p.Leu151ArgfsTer9
XM_011516950.1:c.451_461del	XP_011515252.1:p.Leu151ArgfsTer9
XM_011516951.1:c.451_461del	XP_011515253.1:p.Leu151ArgfsTer9
XM_011516952.1:c.187_197del	XP_011515254.1:p.Leu63ArgfsTer9
XM_011516953.1:c.73_83del	XP_011515255.1:p.Leu25ArgfsTer9
XM_011516954.1:c.73_83del	XP_011515256.1:p.Leu25ArgfsTer9
XR_428377.2:n.576_586del
NM_001321961.1:c.433_443del	NP_001308890.1:p.Leu145ArgfsTer9
NM_001321962.1:c.187_197del	NP_001308891.1:p.Leu63ArgfsTer9
NM_001321963.1:c.73_83del	NP_001308892.1:p.Leu25ArgfsTer9
NM_001321964.1:c.73_83del	NP_001308893.1:p.Leu25ArgfsTer9
NM_001321965.1:c.73_83del	NP_001308894.1:p.Leu25ArgfsTer9
NM_001321966.1:c.73_83del	NP_001308895.1:p.Leu25ArgfsTer9
NM_012472.5:c.433_443del	NP_036604.2:p.Leu145ArgfsTer9
NR_073525.2:n.557_567del
NR_135905.1:n.866+4975_866+4985del
NR_135906.1:n.307+4975_307+4985del
NR_135907.1:n.553+4975_553+4985del
NR_135908.1:n.307+4975_307+4985del
NR_135909.1:n.671+4975_671+4985del
NR_135910.1:n.978+4975_978+4985del
NR_135911.1:n.1057+4975_1057+4985del
NR_135912.1:n.1616+4975_1616+4985del
NR_135913.1:n.1303+4975_1303+4985del
XM_006716538.3:c.451_461del	XP_006716601.2:p.Leu151ArgfsTer9
XM_011516950.2:c.451_461del	XP_011515252.1:p.Leu151ArgfsTer9
XM_017013296.1:c.331_341del	XP_016868785.1:p.Leu111ArgfsTer9
XM_017013297.1:c.73_83del	XP_016868786.1:p.Leu25ArgfsTer9
XM_017013298.1:c.73_83del	XP_016868787.1:p.Leu25ArgfsTer9
NM_012472.6:c.433_443del MANE Select	NP_036604.2:p.Leu145ArgfsTer9
NM_001321961.2:c.433_443del	NP_001308890.1:p.Leu145ArgfsTer9
NM_001321962.2:c.187_197del	NP_001308891.1:p.Leu63ArgfsTer9
NM_001321963.2:c.73_83del	NP_001308892.1:p.Leu25ArgfsTer9
NM_001321964.2:c.73_83del	NP_001308893.1:p.Leu25ArgfsTer9
NM_001321965.2:c.73_83del	NP_001308894.1:p.Leu25ArgfsTer9
NM_001321966.2:c.73_83del	NP_001308895.1:p.Leu25ArgfsTer9
NR_073525.3:n.485_495del
NR_135905.2:n.794+4975_794+4985del
NR_135906.2:n.235+4975_235+4985del
NR_135907.2:n.481+4975_481+4985del
NR_135908.2:n.235+4975_235+4985del
NR_135909.2:n.691+4975_691+4985del
NR_135910.2:n.1041+4975_1041+4985del
NR_135911.2:n.1161+4975_1161+4985del
NR_135912.2:n.1720+4975_1720+4985del
NR_135913.2:n.1407+4975_1407+4985del