Canonical Allele Identifier: CA1102376606

Gene: GUSB

Linked Data

• dbSNP Id: rs1790943122
• gnomAD v3: 7-65967927-GC-G
• gnomAD v4: 7-65967927-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967930del , CM000669.2:g.65967930del	GRCh38
NC_000007.13:g.65432917del , CM000669.1:g.65432917del	GRCh37
NC_000007.12:g.65070352del	NCBI36
NG_016197.1:g.19387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1477-21del MANE Select	ENSP00000302728.4:n.1477-21del
ENST00000304895.8:c.1477-21del	ENSP00000302728.4:n.1477-21del
ENST00000421103.5:c.1039-21del	ENSP00000391390.1:n.1039-21del
ENST00000430730.5:c.*744-21del	ENSP00000411859.1:n.*744-21del
ENST00000447929.5:c.*857-21del	ENSP00000411262.1:n.*857-21del
ENST00000462371.1:n.515-21del
ENST00000466883.5:n.1867-21del
NM_000181.3:c.1477-21del	NP_000172.2:n.1477-21del
NM_001284290.1:c.1039-21del	NP_001271219.1:n.1039-21del
NM_001293104.1:c.907-21del	NP_001280033.1:n.907-21del
NM_001293105.1:c.820-21del	NP_001280034.1:n.820-21del
NR_120531.1:n.1523-21del
XM_005250297.3:c.1324-21del	XP_005250354.1:n.1324-21del
XM_011516113.1:c.976-21del	XP_011514415.1:n.976-21del
XM_011516114.1:c.805-21del	XP_011514416.1:n.805-21del
XR_927461.1:n.1563-21del
XM_005250297.4:c.1324-21del	XP_005250354.1:n.1324-21del
XM_011516114.2:c.805-21del	XP_011514416.1:n.805-21del
XM_017012091.1:c.823-21del	XP_016867580.1:n.823-21del
XM_017012092.1:c.754-21del	XP_016867581.1:n.754-21del
XM_017012093.2:c.652-21del	XP_016867582.1:n.652-21del
XR_001744658.2:n.1284-21del
XR_001744659.2:n.1397-21del
XR_001744660.2:n.1329-21del
XR_001744661.2:n.1244-21del
XR_927461.3:n.1482-21del
NM_000181.4:c.1477-21del MANE Select	NP_000172.2:n.1477-21del
NM_001284290.2:c.1039-21del	NP_001271219.1:n.1039-21del
NM_001293104.2:c.907-21del	NP_001280033.1:n.907-21del
NM_001293105.2:c.820-21del	NP_001280034.1:n.820-21del
NR_120531.2:n.1422-21del