Canonical Allele Identifier: CA585257817

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1004346577
• gnomAD v2: 8-133644536-TAGAG-T
• MyVariant Identifiers: chr8:g.133644537_133644540del (hg19) ; chr8:g.132632291_132632294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132632293_132632296del , CM000670.2:g.132632293_132632296del	GRCh38
NC_000008.10:g.133644539_133644542del , CM000670.1:g.133644539_133644542del	GRCh37
NC_000008.9:g.133713721_133713724del	NCBI36
NG_033068.1:g.48324_48327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.653+446_653+449del MANE Select	ENSP00000484634.1:n.653+446_653+449del
ENST00000250173.5:c.653+446_653+449del	ENSP00000250173.2:n.653+446_653+449del
ENST00000518642.5:c.653+446_653+449del	ENSP00000428610.1:n.653+446_653+449del
ENST00000519595.5:c.653+446_653+449del	ENSP00000429791.1:n.653+446_653+449del
ENST00000520446.5:n.528+5641_528+5644del
ENST00000523503.1:n.415+5641_415+5644del
ENST00000618342.1:c.653+446_653+449del	ENSP00000484802.1:n.653+446_653+449del
ENST00000620350.4:c.653+446_653+449del	ENSP00000484634.1:n.653+446_653+449del
NM_012472.4:c.653+446_653+449del	NP_036604.2:n.653+446_653+449del
NR_073525.1:n.777+446_777+449del
XM_006716538.2:c.671+446_671+449del	XP_006716601.2:n.671+446_671+449del
XM_011516950.1:c.671+446_671+449del	XP_011515252.1:n.671+446_671+449del
XM_011516951.1:c.671+446_671+449del	XP_011515253.1:n.671+446_671+449del
XM_011516952.1:c.407+446_407+449del	XP_011515254.1:n.407+446_407+449del
XM_011516953.1:c.293+446_293+449del	XP_011515255.1:n.293+446_293+449del
XM_011516954.1:c.293+446_293+449del	XP_011515256.1:n.293+446_293+449del
XR_428377.2:n.796+446_796+449del
NM_001321961.1:c.653+446_653+449del	NP_001308890.1:n.653+446_653+449del
NM_001321962.1:c.407+446_407+449del	NP_001308891.1:n.407+446_407+449del
NM_001321963.1:c.293+446_293+449del	NP_001308892.1:n.293+446_293+449del
NM_001321964.1:c.293+446_293+449del	NP_001308893.1:n.293+446_293+449del
NM_001321965.1:c.293+446_293+449del	NP_001308894.1:n.293+446_293+449del
NM_001321966.1:c.293+446_293+449del	NP_001308895.1:n.293+446_293+449del
NM_012472.5:c.653+446_653+449del	NP_036604.2:n.653+446_653+449del
NR_073525.2:n.777+446_777+449del
NR_135905.1:n.866+5641_866+5644del
NR_135906.1:n.307+5641_307+5644del
NR_135907.1:n.553+5641_553+5644del
NR_135908.1:n.307+5641_307+5644del
NR_135909.1:n.671+5641_671+5644del
NR_135910.1:n.978+5641_978+5644del
NR_135911.1:n.1057+5641_1057+5644del
NR_135912.1:n.1616+5641_1616+5644del
NR_135913.1:n.1303+5641_1303+5644del
XM_006716538.3:c.671+446_671+449del	XP_006716601.2:n.671+446_671+449del
XM_011516950.2:c.671+446_671+449del	XP_011515252.1:n.671+446_671+449del
XM_017013296.1:c.551+446_551+449del	XP_016868785.1:n.551+446_551+449del
XM_017013297.1:c.293+446_293+449del	XP_016868786.1:n.293+446_293+449del
XM_017013298.1:c.293+446_293+449del	XP_016868787.1:n.293+446_293+449del
NM_012472.6:c.653+446_653+449del MANE Select	NP_036604.2:n.653+446_653+449del
NM_001321961.2:c.653+446_653+449del	NP_001308890.1:n.653+446_653+449del
NM_001321962.2:c.407+446_407+449del	NP_001308891.1:n.407+446_407+449del
NM_001321963.2:c.293+446_293+449del	NP_001308892.1:n.293+446_293+449del
NM_001321964.2:c.293+446_293+449del	NP_001308893.1:n.293+446_293+449del
NM_001321965.2:c.293+446_293+449del	NP_001308894.1:n.293+446_293+449del
NM_001321966.2:c.293+446_293+449del	NP_001308895.1:n.293+446_293+449del
NR_073525.3:n.705+446_705+449del
NR_135905.2:n.794+5641_794+5644del
NR_135906.2:n.235+5641_235+5644del
NR_135907.2:n.481+5641_481+5644del
NR_135908.2:n.235+5641_235+5644del
NR_135909.2:n.691+5641_691+5644del
NR_135910.2:n.1041+5641_1041+5644del
NR_135911.2:n.1161+5641_1161+5644del
NR_135912.2:n.1720+5641_1720+5644del
NR_135913.2:n.1407+5641_1407+5644del