Canonical Allele Identifier: CA2820761683

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206115_47206248del , CM000685.2:g.47206115_47206248del	GRCh38
NC_000023.10:g.47065514_47065647del , CM000685.1:g.47065514_47065647del	GRCh37
NC_000023.9:g.46950458_46950591del	NCBI36
NG_009161.1:g.20316_20449del
NG_021353.1:g.6268_6401del

Transcript Alleles

HGVS	Amino-acid change
ENST00000335972.11:c.1741+2_1742del
ENST00000335972.10:c.1741+2_1742del
ENST00000377351.8:c.1741+2_1742del
ENST00000490869.1:n.500+2_501del
NM_003334.3:c.1741+2_1742del
NM_153280.2:c.1741+2_1742del
XM_005272649.1:c.1759+2_1760del
XM_005272650.1:c.1741+2_1742del
XM_011543953.1:c.1825+2_1826del
XM_011543954.1:c.1783+2_1784del
XM_011543955.1:c.1759+2_1760del
XM_011543956.1:c.1741+2_1742del
XR_949047.1:n.216-897_216-764del
XM_011543954.2:c.1783+2_1784del
XM_017029777.1:c.1894+2_1895del
XM_017029778.2:c.1825+2_1826del
XM_017029779.2:c.1759+2_1760del
XM_017029780.1:c.1741+2_1742del
XM_017029781.1:c.1741+2_1742del
XR_949047.3:n.284-897_284-764del
NM_003334.4:c.1741+2_1742del
NM_153280.3:c.1741+2_1742del