Canonical Allele Identifier: CA1064322489

Gene: ART3 NUP54

Linked Data

• gnomAD v3: 4-76108987-TTG-T
• gnomAD v4: 4-76108987-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76108988_76108989del , CM000666.2:g.76108988_76108989del	GRCh38
NC_000004.11:g.77030141_77030142del , CM000666.1:g.77030141_77030142del	GRCh37
NC_000004.10:g.77249165_77249166del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000511188.2:c.1069+1195_1069+1196del (ART3)	ENSP00000422249.2:n.1069+1195_1069+1196del
ENST00000695546.1:c.*4948_*4949del (NUP54)	ENSP00000512003.1:n.*4948_*4949del
ENST00000700440.1:c.938-3398_938-3397del (ART3)	ENSP00000514989.1:n.938-3398_938-3397del
ENST00000355810.9:c.1036+1195_1036+1196del (ART3) MANE Select	ENSP00000348064.4:n.1036+1195_1036+1196del
ENST00000341029.9:c.971-3398_971-3397del (ART3)	ENSP00000343843.5:n.971-3398_971-3397del
ENST00000349321.7:c.1003+1195_1003+1196del (ART3)	ENSP00000304313.5:n.1003+1195_1003+1196del
ENST00000355810.8:c.1036+1195_1036+1196del (ART3)	ENSP00000348064.4:n.1036+1195_1036+1196del
ENST00000395688.7:n.172-3398_172-3397del (ART3)
ENST00000504112.5:n.268-3398_268-3397del (ART3)
ENST00000506313.1:n.259+1195_259+1196del (ART3)
ENST00000506667.5:n.235-3398_235-3397del (ART3)
ENST00000510669.5:n.389-2919_389-2918del (ART3)
ENST00000510863.1:n.578+1195_578+1196del (ART3)
ENST00000511188.1:c.325+1195_325+1196del (ART3)	ENSP00000422249.1:n.325+1195_325+1196del
NM_001130016.2:c.1036+1195_1036+1196del (ART3)	NP_001123488.1:n.1036+1195_1036+1196del
NM_001130017.2:c.971-3398_971-3397del (ART3)	NP_001123489.1:n.971-3398_971-3397del
NM_001179.5:c.1003+1195_1003+1196del (ART3)	NP_001170.2:n.1003+1195_1003+1196del
XM_005262997.1:c.1069+1195_1069+1196del (ART3)	XP_005263054.1:n.1069+1195_1069+1196del
XM_005262999.1:c.1004-3398_1004-3397del (ART3)	XP_005263056.1:n.1004-3398_1004-3397del
XM_005263003.1:c.941-3398_941-3397del (ART3)	XP_005263060.1:n.941-3398_941-3397del
XM_005263004.1:c.938-3398_938-3397del (ART3)	XP_005263061.1:n.938-3398_938-3397del
XM_006714218.1:c.1039+1195_1039+1196del (ART3)	XP_006714281.1:n.1039+1195_1039+1196del
XM_006714220.1:c.973+1195_973+1196del (ART3)	XP_006714283.1:n.973+1195_973+1196del
XM_011531967.1:c.1037-948_1037-947del (ART3)	XP_011530269.1:n.1037-948_1037-947del
XM_011531968.1:c.1007-948_1007-947del (ART3)	XP_011530270.1:n.1007-948_1007-947del
XM_011531969.1:c.974-948_974-947del (ART3)	XP_011530271.1:n.974-948_974-947del
XM_011531970.1:c.947-948_947-947del (ART3)	XP_011530272.1:n.947-948_947-947del
XM_011531971.1:c.974-3398_974-3397del (ART3)	XP_011530273.1:n.974-3398_974-3397del
XM_017008210.2:c.914-3398_914-3397del (ART3)	XP_016863699.1:n.914-3398_914-3397del
XM_024454055.1:c.1069+1195_1069+1196del (ART3)	XP_024309823.1:n.1069+1195_1069+1196del
XM_024454056.1:c.1006+1195_1006+1196del (ART3)	XP_024309824.1:n.1006+1195_1006+1196del
XM_024454057.1:c.1004-3398_1004-3397del (ART3)	XP_024309825.1:n.1004-3398_1004-3397del
XM_024454058.1:c.974-3398_974-3397del (ART3)	XP_024309826.1:n.974-3398_974-3397del
XM_024454059.1:c.973+1195_973+1196del (ART3)	XP_024309827.1:n.973+1195_973+1196del
XM_024454060.1:c.971-3398_971-3397del (ART3)	XP_024309828.1:n.971-3398_971-3397del
XM_024454061.1:c.941-3398_941-3397del (ART3)	XP_024309829.1:n.941-3398_941-3397del
XM_024454062.1:c.938-3398_938-3397del (ART3)	XP_024309830.1:n.938-3398_938-3397del
XM_024454063.1:c.938-3398_938-3397del (ART3)	XP_024309831.1:n.938-3398_938-3397del
XR_002959732.1:n.2393-3398_2393-3397del (ART3)
XR_002959733.1:n.2834-3398_2834-3397del (ART3)
NM_001130016.3:c.1036+1195_1036+1196del (ART3) MANE Select	NP_001123488.1:n.1036+1195_1036+1196del
NM_001130017.3:c.971-3398_971-3397del (ART3)	NP_001123489.1:n.971-3398_971-3397del
NM_001179.6:c.1003+1195_1003+1196del (ART3)	NP_001170.2:n.1003+1195_1003+1196del
NM_001377173.1:c.1069+1195_1069+1196del (ART3)	NP_001364102.1:n.1069+1195_1069+1196del
NM_001377174.1:c.1004-3398_1004-3397del (ART3)	NP_001364103.1:n.1004-3398_1004-3397del
NM_001377175.1:c.971-3398_971-3397del (ART3)	NP_001364104.1:n.971-3398_971-3397del
NM_001377176.1:c.941-3398_941-3397del (ART3)	NP_001364105.1:n.941-3398_941-3397del
NM_001377177.1:c.908-3398_908-3397del (ART3)	NP_001364106.1:n.908-3398_908-3397del
NM_001377178.1:c.908-3398_908-3397del (ART3)	NP_001364107.1:n.908-3398_908-3397del
NM_001377179.1:c.908-3398_908-3397del (ART3)	NP_001364108.1:n.908-3398_908-3397del
NM_001377180.1:c.875-3398_875-3397del (ART3)	NP_001364109.1:n.875-3398_875-3397del
NM_001377181.1:c.848-3398_848-3397del (ART3)	NP_001364110.1:n.848-3398_848-3397del
NM_001377182.1:c.848-3398_848-3397del (ART3)	NP_001364111.1:n.848-3398_848-3397del
NM_001377183.1:c.815-3398_815-3397del (ART3)	NP_001364112.1:n.815-3398_815-3397del
NM_001377184.1:c.815-3398_815-3397del (ART3)	NP_001364113.1:n.815-3398_815-3397del
NM_001377185.1:c.782-3398_782-3397del (ART3)	NP_001364114.1:n.782-3398_782-3397del