Canonical Allele Identifier: CA585279379

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1428817504
• gnomAD v2: 8-133645104-TAAGAC-T
• gnomAD v4: 8-132632858-TAAGAC-T
• MyVariant Identifiers: chr8:g.133645105_133645109del (hg19) ; chr8:g.132632859_132632863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132632860_132632864del , CM000670.2:g.132632860_132632864del	GRCh38
NC_000008.10:g.133645106_133645110del , CM000670.1:g.133645106_133645110del	GRCh37
NC_000008.9:g.133714288_133714292del	NCBI36
NG_033068.1:g.47755_47759del

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.530_534del MANE Select	ENSP00000484634.1:p.Cys177Ter
ENST00000250173.5:c.530_534del	ENSP00000250173.2:p.Cys177Ter
ENST00000518642.5:c.530_534del	ENSP00000428610.1:p.Cys177Ter
ENST00000519595.5:c.530_534del	ENSP00000429791.1:p.Cys177Ter
ENST00000520446.5:n.528+5072_528+5076del
ENST00000523503.1:n.415+5072_415+5076del
ENST00000618342.1:c.530_534del	ENSP00000484802.1:p.Cys177Ter
ENST00000620350.4:c.530_534del	ENSP00000484634.1:p.Cys177Ter
NM_012472.4:c.530_534del	NP_036604.2:p.Cys177Ter
NR_073525.1:n.654_658del
XM_006716538.2:c.548_552del	XP_006716601.2:p.Cys183Ter
XM_011516950.1:c.548_552del	XP_011515252.1:p.Cys183Ter
XM_011516951.1:c.548_552del	XP_011515253.1:p.Cys183Ter
XM_011516952.1:c.284_288del	XP_011515254.1:p.Cys95Ter
XM_011516953.1:c.170_174del	XP_011515255.1:p.Cys57Ter
XM_011516954.1:c.170_174del	XP_011515256.1:p.Cys57Ter
XR_428377.2:n.673_677del
NM_001321961.1:c.530_534del	NP_001308890.1:p.Cys177Ter
NM_001321962.1:c.284_288del	NP_001308891.1:p.Cys95Ter
NM_001321963.1:c.170_174del	NP_001308892.1:p.Cys57Ter
NM_001321964.1:c.170_174del	NP_001308893.1:p.Cys57Ter
NM_001321965.1:c.170_174del	NP_001308894.1:p.Cys57Ter
NM_001321966.1:c.170_174del	NP_001308895.1:p.Cys57Ter
NM_012472.5:c.530_534del	NP_036604.2:p.Cys177Ter
NR_073525.2:n.654_658del
NR_135905.1:n.866+5072_866+5076del
NR_135906.1:n.307+5072_307+5076del
NR_135907.1:n.553+5072_553+5076del
NR_135908.1:n.307+5072_307+5076del
NR_135909.1:n.671+5072_671+5076del
NR_135910.1:n.978+5072_978+5076del
NR_135911.1:n.1057+5072_1057+5076del
NR_135912.1:n.1616+5072_1616+5076del
NR_135913.1:n.1303+5072_1303+5076del
XM_006716538.3:c.548_552del	XP_006716601.2:p.Cys183Ter
XM_011516950.2:c.548_552del	XP_011515252.1:p.Cys183Ter
XM_017013296.1:c.428_432del	XP_016868785.1:p.Cys143Ter
XM_017013297.1:c.170_174del	XP_016868786.1:p.Cys57Ter
XM_017013298.1:c.170_174del	XP_016868787.1:p.Cys57Ter
NM_012472.6:c.530_534del MANE Select	NP_036604.2:p.Cys177Ter
NM_001321961.2:c.530_534del	NP_001308890.1:p.Cys177Ter
NM_001321962.2:c.284_288del	NP_001308891.1:p.Cys95Ter
NM_001321963.2:c.170_174del	NP_001308892.1:p.Cys57Ter
NM_001321964.2:c.170_174del	NP_001308893.1:p.Cys57Ter
NM_001321965.2:c.170_174del	NP_001308894.1:p.Cys57Ter
NM_001321966.2:c.170_174del	NP_001308895.1:p.Cys57Ter
NR_073525.3:n.582_586del
NR_135905.2:n.794+5072_794+5076del
NR_135906.2:n.235+5072_235+5076del
NR_135907.2:n.481+5072_481+5076del
NR_135908.2:n.235+5072_235+5076del
NR_135909.2:n.691+5072_691+5076del
NR_135910.2:n.1041+5072_1041+5076del
NR_135911.2:n.1161+5072_1161+5076del
NR_135912.2:n.1720+5072_1720+5076del
NR_135913.2:n.1407+5072_1407+5076del