Canonical Allele Identifier: CA2683077804

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961010-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961012del , CM000669.2:g.65961012del	GRCh38
NC_000007.13:g.65425999del , CM000669.1:g.65425999del	GRCh37
NC_000007.12:g.65063434del	NCBI36
NG_016197.1:g.26304del
NG_051954.1:g.92914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1842del MANE Select	ENSP00000302728.4:p.Gln614HisfsTer26
ENST00000304895.8:c.1842del	ENSP00000302728.4:p.Gln614HisfsTer26
ENST00000421103.5:c.1404del	ENSP00000391390.1:p.Gln468HisfsTer26
ENST00000430730.5:c.*1109del	ENSP00000411859.1:n.*1109del
ENST00000447929.5:c.*1222del	ENSP00000411262.1:n.*1222del
ENST00000466883.5:n.2232del
NM_000181.3:c.1842del	NP_000172.2:p.Gln614HisfsTer26
NM_001284290.1:c.1404del	NP_001271219.1:p.Gln468HisfsTer26
NM_001293104.1:c.1272del	NP_001280033.1:p.Gln424HisfsTer26
NM_001293105.1:c.1185del	NP_001280034.1:p.Gln395HisfsTer26
NR_120531.1:n.1888del
XM_005250297.3:c.1689del	XP_005250354.1:p.Gln563HisfsTer26
XM_011516113.1:c.1341del	XP_011514415.1:p.Gln447HisfsTer26
XM_011516114.1:c.1170del	XP_011514416.1:p.Gln390HisfsTer26
XM_005250297.4:c.1689del	XP_005250354.1:p.Gln563HisfsTer26
XM_011516114.2:c.1170del	XP_011514416.1:p.Gln390HisfsTer26
XM_017012091.1:c.1188del	XP_016867580.1:p.Gln396HisfsTer26
XM_017012092.1:c.1119del	XP_016867581.1:p.Gln373HisfsTer26
XM_017012093.2:c.1017del	XP_016867582.1:p.Gln339HisfsTer26
XR_001744658.2:n.1649del
XR_001744659.2:n.1762del
XR_001744660.2:n.1694del
XR_001744661.2:n.1609del
XR_927461.3:n.1847del
NM_000181.4:c.1842del MANE Select	NP_000172.2:p.Gln614HisfsTer26
NM_001284290.2:c.1404del	NP_001271219.1:p.Gln468HisfsTer26
NM_001293104.2:c.1272del	NP_001280033.1:p.Gln424HisfsTer26
NM_001293105.2:c.1185del	NP_001280034.1:p.Gln395HisfsTer26
NR_120531.2:n.1787del