Canonical Allele Identifier: CA2820761684

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206114_47206115insCATGTACATGGACCGCCGC , CM000685.2:g.47206114_47206115insCATGTACATGGACCGCCGC	GRCh38
NC_000023.10:g.47065513_47065514insCATGTACATGGACCGCCGC , CM000685.1:g.47065513_47065514insCATGTACATGGACCGCCGC	GRCh37
NC_000023.9:g.46950457_46950458insCATGTACATGGACCGCCGC	NCBI36
NG_009161.1:g.20315_20316insCATGTACATGGACCGCCGC
NG_021353.1:g.6267_6268insCATGTACATGGACCGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1741+1_1741+2insCATGTACATGGACCGCCGC MANE Select	ENSP00000338413.6:n.1741+1_1741+2insCATGTACATGGACCGCCGC
ENST00000335972.10:c.1741+1_1741+2insCATGTACATGGACCGCCGC	ENSP00000338413.6:n.1741+1_1741+2insCATGTACATGGACCGCCGC
ENST00000377351.8:c.1741+1_1741+2insCATGTACATGGACCGCCGC	ENSP00000366568.4:n.1741+1_1741+2insCATGTACATGGACCGCCGC
ENST00000490869.1:n.500+1_500+2insCATGTACATGGACCGCCGC
NM_003334.3:c.1741+1_1741+2insCATGTACATGGACCGCCGC	NP_003325.2:n.1741+1_1741+2insCATGTACATGGACCGCCGC
NM_153280.2:c.1741+1_1741+2insCATGTACATGGACCGCCGC	NP_695012.1:n.1741+1_1741+2insCATGTACATGGACCGCCGC
XM_005272649.1:c.1759+1_1759+2insCATGTACATGGACCGCCGC	XP_005272706.1:n.1759+1_1759+2insCATGTACATGGACCGCCGC
XM_005272650.1:c.1741+1_1741+2insCATGTACATGGACCGCCGC	XP_005272707.1:n.1741+1_1741+2insCATGTACATGGACCGCCGC
XM_011543953.1:c.1825+1_1825+2insCATGTACATGGACCGCCGC	XP_011542255.1:n.1825+1_1825+2insCATGTACATGGACCGCCGC
XM_011543954.1:c.1783+1_1783+2insCATGTACATGGACCGCCGC	XP_011542256.1:n.1783+1_1783+2insCATGTACATGGACCGCCGC
XM_011543955.1:c.1759+1_1759+2insCATGTACATGGACCGCCGC	XP_011542257.1:n.1759+1_1759+2insCATGTACATGGACCGCCGC
XM_011543956.1:c.1741+1_1741+2insCATGTACATGGACCGCCGC	XP_011542258.1:n.1741+1_1741+2insCATGTACATGGACCGCCGC
XR_949047.1:n.216-765_216-764insGCGGCGGTCCATGTACATG
XM_011543954.2:c.1783+1_1783+2insCATGTACATGGACCGCCGC	XP_011542256.1:n.1783+1_1783+2insCATGTACATGGACCGCCGC
XM_017029777.1:c.1894+1_1894+2insCATGTACATGGACCGCCGC	XP_016885266.1:n.1894+1_1894+2insCATGTACATGGACCGCCGC
XM_017029778.2:c.1825+1_1825+2insCATGTACATGGACCGCCGC	XP_016885267.1:n.1825+1_1825+2insCATGTACATGGACCGCCGC
XM_017029779.2:c.1759+1_1759+2insCATGTACATGGACCGCCGC	XP_016885268.1:n.1759+1_1759+2insCATGTACATGGACCGCCGC
XM_017029780.1:c.1741+1_1741+2insCATGTACATGGACCGCCGC	XP_016885269.1:n.1741+1_1741+2insCATGTACATGGACCGCCGC
XM_017029781.1:c.1741+1_1741+2insCATGTACATGGACCGCCGC	XP_016885270.1:n.1741+1_1741+2insCATGTACATGGACCGCCGC
XR_949047.3:n.284-765_284-764insGCGGCGGTCCATGTACATG
NM_003334.4:c.1741+1_1741+2insCATGTACATGGACCGCCGC MANE Select	NP_003325.2:n.1741+1_1741+2insCATGTACATGGACCGCCGC
NM_153280.3:c.1741+1_1741+2insCATGTACATGGACCGCCGC	NP_695012.1:n.1741+1_1741+2insCATGTACATGGACCGCCGC