Canonical Allele Identifier: CA913189527
Community Standard Title: NM_004947.5(DOCK3):c.3107_3110del (p.Tyr1036LeufsTer8)
Gene: DOCK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51312489_51312492del , CM000665.2:g.51312489_51312492del GRCh38
NC_000003.11:g.51349920_51349923del , CM000665.1:g.51349920_51349923del GRCh37
NC_000003.10:g.51324960_51324963del NCBI36
NG_028012.1:g.642249_642252del
NG_028012.2:g.642249_642252del

Transcript Alleles

HGVS Amino-acid Change
NM_004947.5:c.3107_3110del MANE Select NP_004938.1:p.Tyr1036LeufsTer8
ENST00000266037.10:c.3107_3110del MANE Select ENSP00000266037.8:p.Tyr1036LeufsTer8
NM_004947.4:c.3107_3110del NP_004938.1:p.Tyr1036LeufsTer8
ENST00000266037.9:c.3107_3110del ENSP00000266037.8:p.Tyr1036LeufsTer8
XM_005264914.2:c.3107_3110del XP_005264971.1:p.Tyr1036LeufsTer8
XM_005264914.3:c.3107_3110del XP_005264971.1:p.Tyr1036LeufsTer8
XM_005264915.2:c.3107_3110del XP_005264972.1:p.Tyr1036LeufsTer8
XM_005264915.3:c.3107_3110del XP_005264972.1:p.Tyr1036LeufsTer8
XM_005264916.2:c.3107_3110del XP_005264973.1:p.Tyr1036LeufsTer8
XM_005264916.4:c.3107_3110del XP_005264973.1:p.Tyr1036LeufsTer8
XM_005264917.2:c.3065_3068del XP_005264974.1:p.Tyr1022LeufsTer8
XM_005264917.3:c.3065_3068del XP_005264974.1:p.Tyr1022LeufsTer8
XM_005264918.2:c.2960_2963del XP_005264975.1:p.Tyr987LeufsTer8
XM_005264918.4:c.2960_2963del XP_005264975.1:p.Tyr987LeufsTer8
XM_006713008.2:c.3107_3110del XP_006713071.1:p.Tyr1036LeufsTer8
XM_006713008.3:c.3107_3110del XP_006713071.1:p.Tyr1036LeufsTer8
XM_006713009.2:c.3107_3110del XP_006713072.1:p.Tyr1036LeufsTer8
XM_006713009.3:c.3107_3110del XP_006713072.1:p.Tyr1036LeufsTer8
XM_006713010.2:c.3107_3110del XP_006713073.1:p.Tyr1036LeufsTer8
XM_006713010.3:c.3107_3110del XP_006713073.1:p.Tyr1036LeufsTer8
XM_011533441.1:c.2072_2075del XP_011531743.1:p.Tyr691LeufsTer8
XM_011533441.3:c.2072_2075del XP_011531743.1:p.Tyr691LeufsTer8
XM_011533442.1:c.857_860del XP_011531744.1:p.Tyr286LeufsTer8
XM_011533443.1:c.419_422del XP_011531745.1:p.Tyr140LeufsTer8
XM_011533443.2:c.419_422del XP_011531745.1:p.Tyr140LeufsTer8
XM_011533444.1:c.419_422del XP_011531746.1:p.Tyr140LeufsTer8
XM_011533444.2:c.419_422del XP_011531746.1:p.Tyr140LeufsTer8
XM_011533445.1:c.245_248del XP_011531747.1:p.Tyr82LeufsTer8
XM_011533445.2:c.245_248del XP_011531747.1:p.Tyr82LeufsTer8
XM_017005825.2:c.3107_3110del XP_016861314.1:p.Tyr1036LeufsTer8
XM_017005826.2:c.3107_3110del XP_016861315.1:p.Tyr1036LeufsTer8
XM_017005827.2:c.2294_2297del XP_016861316.1:p.Tyr765LeufsTer8
XM_017005828.1:c.245_248del XP_016861317.1:p.Tyr82LeufsTer8