Canonical Allele Identifier: CA1469467685

Linked Data

dbSNP Id: rs1728987264

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76109009_76109012dup , CM000666.2:g.76109009_76109012dup GRCh38
NC_000004.11:g.77030162_77030165dup , CM000666.1:g.77030162_77030165dup GRCh37
NC_000004.10:g.77249186_77249189dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000511188.2:c.1069+1216_1069+1219dup (ART3) ENSP00000422249.2:n.1069+1216_1069+1219dup
ENST00000695546.1:c.*4925_*4928dup (NUP54) ENSP00000512003.1:n.*4925_*4928dup
ENST00000700440.1:c.938-3377_938-3374dup (ART3) ENSP00000514989.1:n.938-3377_938-3374dup
ENST00000355810.9:c.1036+1216_1036+1219dup (ART3) MANE Select ENSP00000348064.4:n.1036+1216_1036+1219dup
ENST00000341029.9:c.971-3377_971-3374dup (ART3) ENSP00000343843.5:n.971-3377_971-3374dup
ENST00000349321.7:c.1003+1216_1003+1219dup (ART3) ENSP00000304313.5:n.1003+1216_1003+1219dup
ENST00000355810.8:c.1036+1216_1036+1219dup (ART3) ENSP00000348064.4:n.1036+1216_1036+1219dup
ENST00000395688.7:n.172-3377_172-3374dup (ART3)
ENST00000504112.5:n.268-3377_268-3374dup (ART3)
ENST00000506313.1:n.259+1216_259+1219dup (ART3)
ENST00000506667.5:n.235-3377_235-3374dup (ART3)
ENST00000510669.5:n.389-2898_389-2895dup (ART3)
ENST00000510863.1:n.578+1216_578+1219dup (ART3)
ENST00000511188.1:c.325+1216_325+1219dup (ART3) ENSP00000422249.1:n.325+1216_325+1219dup
NM_001130016.2:c.1036+1216_1036+1219dup (ART3) NP_001123488.1:n.1036+1216_1036+1219dup
NM_001130017.2:c.971-3377_971-3374dup (ART3) NP_001123489.1:n.971-3377_971-3374dup
NM_001179.5:c.1003+1216_1003+1219dup (ART3) NP_001170.2:n.1003+1216_1003+1219dup
XM_005262997.1:c.1069+1216_1069+1219dup (ART3) XP_005263054.1:n.1069+1216_1069+1219dup
XM_005262999.1:c.1004-3377_1004-3374dup (ART3) XP_005263056.1:n.1004-3377_1004-3374dup
XM_005263003.1:c.941-3377_941-3374dup (ART3) XP_005263060.1:n.941-3377_941-3374dup
XM_005263004.1:c.938-3377_938-3374dup (ART3) XP_005263061.1:n.938-3377_938-3374dup
XM_006714218.1:c.1039+1216_1039+1219dup (ART3) XP_006714281.1:n.1039+1216_1039+1219dup
XM_006714220.1:c.973+1216_973+1219dup (ART3) XP_006714283.1:n.973+1216_973+1219dup
XM_011531967.1:c.1037-927_1037-924dup (ART3) XP_011530269.1:n.1037-927_1037-924dup
XM_011531968.1:c.1007-927_1007-924dup (ART3) XP_011530270.1:n.1007-927_1007-924dup
XM_011531969.1:c.974-927_974-924dup (ART3) XP_011530271.1:n.974-927_974-924dup
XM_011531970.1:c.947-927_947-924dup (ART3) XP_011530272.1:n.947-927_947-924dup
XM_011531971.1:c.974-3377_974-3374dup (ART3) XP_011530273.1:n.974-3377_974-3374dup
XM_017008210.2:c.914-3377_914-3374dup (ART3) XP_016863699.1:n.914-3377_914-3374dup
XM_024454055.1:c.1069+1216_1069+1219dup (ART3) XP_024309823.1:n.1069+1216_1069+1219dup
XM_024454056.1:c.1006+1216_1006+1219dup (ART3) XP_024309824.1:n.1006+1216_1006+1219dup
XM_024454057.1:c.1004-3377_1004-3374dup (ART3) XP_024309825.1:n.1004-3377_1004-3374dup
XM_024454058.1:c.974-3377_974-3374dup (ART3) XP_024309826.1:n.974-3377_974-3374dup
XM_024454059.1:c.973+1216_973+1219dup (ART3) XP_024309827.1:n.973+1216_973+1219dup
XM_024454060.1:c.971-3377_971-3374dup (ART3) XP_024309828.1:n.971-3377_971-3374dup
XM_024454061.1:c.941-3377_941-3374dup (ART3) XP_024309829.1:n.941-3377_941-3374dup
XM_024454062.1:c.938-3377_938-3374dup (ART3) XP_024309830.1:n.938-3377_938-3374dup
XM_024454063.1:c.938-3377_938-3374dup (ART3) XP_024309831.1:n.938-3377_938-3374dup
XR_002959732.1:n.2393-3377_2393-3374dup (ART3)
XR_002959733.1:n.2834-3377_2834-3374dup (ART3)
NM_001130016.3:c.1036+1216_1036+1219dup (ART3) MANE Select NP_001123488.1:n.1036+1216_1036+1219dup
NM_001130017.3:c.971-3377_971-3374dup (ART3) NP_001123489.1:n.971-3377_971-3374dup
NM_001179.6:c.1003+1216_1003+1219dup (ART3) NP_001170.2:n.1003+1216_1003+1219dup
NM_001377173.1:c.1069+1216_1069+1219dup (ART3) NP_001364102.1:n.1069+1216_1069+1219dup
NM_001377174.1:c.1004-3377_1004-3374dup (ART3) NP_001364103.1:n.1004-3377_1004-3374dup
NM_001377175.1:c.971-3377_971-3374dup (ART3) NP_001364104.1:n.971-3377_971-3374dup
NM_001377176.1:c.941-3377_941-3374dup (ART3) NP_001364105.1:n.941-3377_941-3374dup
NM_001377177.1:c.908-3377_908-3374dup (ART3) NP_001364106.1:n.908-3377_908-3374dup
NM_001377178.1:c.908-3377_908-3374dup (ART3) NP_001364107.1:n.908-3377_908-3374dup
NM_001377179.1:c.908-3377_908-3374dup (ART3) NP_001364108.1:n.908-3377_908-3374dup
NM_001377180.1:c.875-3377_875-3374dup (ART3) NP_001364109.1:n.875-3377_875-3374dup
NM_001377181.1:c.848-3377_848-3374dup (ART3) NP_001364110.1:n.848-3377_848-3374dup
NM_001377182.1:c.848-3377_848-3374dup (ART3) NP_001364111.1:n.848-3377_848-3374dup
NM_001377183.1:c.815-3377_815-3374dup (ART3) NP_001364112.1:n.815-3377_815-3374dup
NM_001377184.1:c.815-3377_815-3374dup (ART3) NP_001364113.1:n.815-3377_815-3374dup
NM_001377185.1:c.782-3377_782-3374dup (ART3) NP_001364114.1:n.782-3377_782-3374dup