Canonical Allele Identifier: CA2580099283

Gene: UPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24522029_24522030dup , CM000684.2:g.24522029_24522030dup	GRCh38
NC_000022.10:g.24917997_24917998dup , CM000684.1:g.24917997_24917998dup	GRCh37
NC_000022.9:g.23247997_23247998dup	NCBI36
NG_012858.1:g.31747_31748dup
NG_012858.2:g.31747_31748dup

Transcript Alleles

HGVS	Amino-acid Change
NM_016327.3:c.916+1_916+2dup MANE Select	NP_057411.1:n.916+1_916+2dup
ENST00000326010.10:c.916+1_916+2dup MANE Select	ENSP00000324343.5:n.916+1_916+2dup
NM_016327.2:c.916+1_916+2dup	NP_057411.1:n.916+1_916+2dup
ENST00000326010.9:c.916+1_916+2dup	ENSP00000324343.5:n.916+1_916+2dup
ENST00000415388.5:c.*615+1_*615+2dup	ENSP00000400684.1:n.*615+1_*615+2dup
ENST00000486043.1:n.338+1_338+2dup
ENST00000498140.1:n.212+1561_212+1562dup
XM_011530222.1:c.997+1_997+2dup	XP_011528524.1:n.997+1_997+2dup
XM_011530222.2:c.997+1_997+2dup	XP_011528524.1:n.997+1_997+2dup
XM_011530224.1:c.954+1561_954+1562dup	XP_011528526.1:n.954+1561_954+1562dup
XM_011530224.2:c.954+1561_954+1562dup	XP_011528526.1:n.954+1561_954+1562dup
XM_011530225.1:c.550+1_550+2dup	XP_011528527.1:n.550+1_550+2dup
XM_011530225.2:c.550+1_550+2dup	XP_011528527.1:n.550+1_550+2dup
XM_017028825.1:c.784+1561_784+1562dup	XP_016884314.1:n.784+1561_784+1562dup
XM_017028826.1:c.997+1_997+2dup	XP_016884315.1:n.997+1_997+2dup
XM_017028827.2:c.827+1_827+2dup	XP_016884316.1:n.827+1_827+2dup
XM_017028828.1:c.784+1561_784+1562dup	XP_016884317.1:n.784+1561_784+1562dup
XR_001755249.1:n.1282+1_1282+2dup
XR_001755250.1:n.1171+1_1171+2dup
XR_937867.1:n.1891+1561_1891+1562dup
XR_937867.2:n.1298+1561_1298+1562dup