Canonical Allele Identifier: CA2697557267

Gene: GUSB

Linked Data

• ClinVar Variation Id: 2742036
• ClinVar RCV Id: RCV003494929

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960906_65960907delinsTG , CM000669.2:g.65960906_65960907delinsTG	GRCh38
NC_000007.13:g.65425893_65425894delinsTG , CM000669.1:g.65425893_65425894delinsTG	GRCh37
NC_000007.12:g.65063328_65063329delinsTG	NCBI36
NG_016197.1:g.26408_26409delinsCA
NG_051954.1:g.92808_92809delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1946_1947delinsCA MANE Select	ENSP00000302728.4:p.Leu649Pro
ENST00000304895.8:c.1946_1947delinsCA	ENSP00000302728.4:p.Leu649Pro
ENST00000421103.5:c.1508_1509delinsCA	ENSP00000391390.1:p.Leu503Pro
ENST00000430730.5:c.*1213_*1214delinsCA	ENSP00000411859.1:n.*1213_*1214delinsCA
ENST00000447929.5:c.*1326_*1327delinsCA	ENSP00000411262.1:n.*1326_*1327delinsCA
ENST00000466883.5:n.2336_2337delinsCA
NM_000181.3:c.1946_1947delinsCA	NP_000172.2:p.Leu649Pro
NM_001284290.1:c.1508_1509delinsCA	NP_001271219.1:p.Leu503Pro
NM_001293104.1:c.1376_1377delinsCA	NP_001280033.1:p.Leu459Pro
NM_001293105.1:c.1289_1290delinsCA	NP_001280034.1:p.Leu430Pro
NR_120531.1:n.1992_1993delinsCA
XM_005250297.3:c.1793_1794delinsCA	XP_005250354.1:p.Leu598Pro
XM_011516113.1:c.1445_1446delinsCA	XP_011514415.1:p.Leu482Pro
XM_011516114.1:c.1274_1275delinsCA	XP_011514416.1:p.Leu425Pro
XM_005250297.4:c.1793_1794delinsCA	XP_005250354.1:p.Leu598Pro
XM_011516114.2:c.1274_1275delinsCA	XP_011514416.1:p.Leu425Pro
XM_017012091.1:c.1292_1293delinsCA	XP_016867580.1:p.Leu431Pro
XM_017012092.1:c.1223_1224delinsCA	XP_016867581.1:p.Leu408Pro
XM_017012093.2:c.1121_1122delinsCA	XP_016867582.1:p.Leu374Pro
XR_001744658.2:n.1753_1754delinsCA
XR_001744659.2:n.1866_1867delinsCA
XR_001744660.2:n.1798_1799delinsCA
XR_001744661.2:n.1713_1714delinsCA
XR_927461.3:n.1951_1952delinsCA
NM_000181.4:c.1946_1947delinsCA MANE Select	NP_000172.2:p.Leu649Pro
NM_001284290.2:c.1508_1509delinsCA	NP_001271219.1:p.Leu503Pro
NM_001293104.2:c.1376_1377delinsCA	NP_001280033.1:p.Leu459Pro
NM_001293105.2:c.1289_1290delinsCA	NP_001280034.1:p.Leu430Pro
NR_120531.2:n.1891_1892delinsCA