Canonical Allele Identifier: CA1713890549

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982113_65982126delinsTGCAGCCCCAGCGC , CM000669.2:g.65982113_65982126delinsTGCAGCCCCAGCGC	GRCh38
NC_000007.13:g.65447100_65447113delinsTGCAGCCCCAGCGC , CM000669.1:g.65447100_65447113delinsTGCAGCCCCAGCGC	GRCh37
NC_000007.12:g.65084535_65084548delinsTGCAGCCCCAGCGC	NCBI36
NG_016197.1:g.5189_5202delinsGCGCTGGGGCTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.58_71delinsGCGCTGGGGCTGCA MANE Select	ENSP00000302728.4:p.Ala20=
ENST00000304895.8:c.58_71delinsGCGCTGGGGCTGCA	ENSP00000302728.4:p.Ala20=
ENST00000421103.5:c.58_71delinsGCGCTGGGGCTGCA	ENSP00000391390.1:p.Ala20=
ENST00000430730.5:c.58_71delinsGCGCTGGGGCTGCA	ENSP00000411859.1:p.Ala20=
ENST00000446111.1:c.58_71delinsGCGCTGGGGCTGCA	ENSP00000416793.1:p.Ala20=
ENST00000447929.5:c.58_71delinsGCGCTGGGGCTGCA	ENSP00000411262.1:p.Ala20=
NM_000181.3:c.58_71delinsGCGCTGGGGCTGCA	NP_000172.2:p.Ala20=
NM_001284290.1:c.58_71delinsGCGCTGGGGCTGCA	NP_001271219.1:p.Ala20=
NM_001293104.1:c.-328_-315delinsGCGCTGGGGCTGCA	NP_001280033.1:n.-328_-315delinsGCGCTGGGG...
NM_001293105.1:c.-272_-259delinsGCGCTGGGGCTGCA	NP_001280034.1:n.-272_-259delinsGCGCTGGGG...
NR_120531.1:n.189_202delinsGCGCTGGGGCTGCA
XM_005250297.3:c.58_71delinsGCGCTGGGGCTGCA	XP_005250354.1:p.Ala20=
XM_011516113.1:c.-272_-259delinsGCGCTGGGGCTGCA	XP_011514415.1:n.-272_-259delinsGCGCTGGGG...
XR_927461.1:n.184_197delinsGCGCTGGGGCTGCA
XM_005250297.4:c.58_71delinsGCGCTGGGGCTGCA	XP_005250354.1:p.Ala20=
XM_011516114.2:c.-628_-615delinsGCGCTGGGGCTGCA	XP_011514416.1:n.-628_-615delinsGCGCTGGGG...
XM_017012091.1:c.-272_-259delinsGCGCTGGGGCTGCA	XP_016867580.1:n.-272_-259delinsGCGCTGGGG...
XM_017012092.1:c.-328_-315delinsGCGCTGGGGCTGCA	XP_016867581.1:n.-328_-315delinsGCGCTGGGG...
XM_017012093.2:c.-628_-615delinsGCGCTGGGGCTGCA	XP_016867582.1:n.-628_-615delinsGCGCTGGGG...
XR_001744658.2:n.103_116delinsGCGCTGGGGCTGCA
XR_001744659.2:n.103_116delinsGCGCTGGGGCTGCA
XR_001744660.2:n.103_116delinsGCGCTGGGGCTGCA
XR_001744661.2:n.103_116delinsGCGCTGGGGCTGCA
XR_927461.3:n.103_116delinsGCGCTGGGGCTGCA
NM_000181.4:c.58_71delinsGCGCTGGGGCTGCA MANE Select	NP_000172.2:p.Ala20=
NM_001284290.2:c.58_71delinsGCGCTGGGGCTGCA	NP_001271219.1:p.Ala20=
NM_001293104.2:c.-328_-315delinsGCGCTGGGGCTGCA	NP_001280033.1:n.-328_-315delinsGCGCTGGGG...
NM_001293105.2:c.-272_-259delinsGCGCTGGGGCTGCA	NP_001280034.1:n.-272_-259delinsGCGCTGGGG...
NR_120531.2:n.88_101delinsGCGCTGGGGCTGCA