Canonical Allele Identifier: CA2683077836

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961035-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961040del , CM000669.2:g.65961040del	GRCh38
NC_000007.13:g.65426027del , CM000669.1:g.65426027del	GRCh37
NC_000007.12:g.65063462del	NCBI36
NG_016197.1:g.26279del
NG_051954.1:g.92942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1817del MANE Select	ENSP00000302728.4:p.Lys606ArgfsTer?
ENST00000304895.8:c.1817del	ENSP00000302728.4:p.Lys606ArgfsTer?
ENST00000421103.5:c.1379del	ENSP00000391390.1:p.Lys460ArgfsTer?
ENST00000430730.5:c.*1084del	ENSP00000411859.1:n.*1084del
ENST00000447929.5:c.*1197del	ENSP00000411262.1:n.*1197del
ENST00000466883.5:n.2207del
NM_000181.3:c.1817del	NP_000172.2:p.Lys606ArgfsTer?
NM_001284290.1:c.1379del	NP_001271219.1:p.Lys460ArgfsTer?
NM_001293104.1:c.1247del	NP_001280033.1:p.Lys416ArgfsTer?
NM_001293105.1:c.1160del	NP_001280034.1:p.Lys387ArgfsTer?
NR_120531.1:n.1863del
XM_005250297.3:c.1664del	XP_005250354.1:p.Lys555ArgfsTer?
XM_011516113.1:c.1316del	XP_011514415.1:p.Lys439ArgfsTer?
XM_011516114.1:c.1145del	XP_011514416.1:p.Lys382ArgfsTer?
XM_005250297.4:c.1664del	XP_005250354.1:p.Lys555ArgfsTer?
XM_011516114.2:c.1145del	XP_011514416.1:p.Lys382ArgfsTer?
XM_017012091.1:c.1163del	XP_016867580.1:p.Lys388ArgfsTer?
XM_017012092.1:c.1094del	XP_016867581.1:p.Lys365ArgfsTer?
XM_017012093.2:c.992del	XP_016867582.1:p.Lys331ArgfsTer?
XR_001744658.2:n.1624del
XR_001744659.2:n.1737del
XR_001744660.2:n.1669del
XR_001744661.2:n.1584del
XR_927461.3:n.1822del
NM_000181.4:c.1817del MANE Select	NP_000172.2:p.Lys606ArgfsTer?
NM_001284290.2:c.1379del	NP_001271219.1:p.Lys460ArgfsTer?
NM_001293104.2:c.1247del	NP_001280033.1:p.Lys416ArgfsTer?
NM_001293105.2:c.1160del	NP_001280034.1:p.Lys387ArgfsTer?
NR_120531.2:n.1762del