Canonical Allele Identifier: CA2683077293

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960727-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960731del , CM000669.2:g.65960731del	GRCh38
NC_000007.13:g.65425718del , CM000669.1:g.65425718del	GRCh37
NC_000007.12:g.65063153del	NCBI36
NG_016197.1:g.26587del
NG_051954.1:g.92633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*169del MANE Select	ENSP00000302728.4:n.*169del
ENST00000304895.8:c.*169del	ENSP00000302728.4:n.*169del
ENST00000421103.5:c.*169del	ENSP00000391390.1:n.*169del
ENST00000430730.5:c.*1392del	ENSP00000411859.1:n.*1392del
ENST00000447929.5:c.*1505del	ENSP00000411262.1:n.*1505del
ENST00000466883.5:n.2515del
NM_000181.3:c.*169del	NP_000172.2:n.*169del
NM_001284290.1:c.*169del	NP_001271219.1:n.*169del
NM_001293104.1:c.*169del	NP_001280033.1:n.*169del
NM_001293105.1:c.*169del	NP_001280034.1:n.*169del
NR_120531.1:n.2171del
XM_005250297.3:c.*169del	XP_005250354.1:n.*169del
XM_011516113.1:c.*169del	XP_011514415.1:n.*169del
XM_011516114.1:c.*169del	XP_011514416.1:n.*169del
XM_005250297.4:c.*169del	XP_005250354.1:n.*169del
XM_011516114.2:c.*169del	XP_011514416.1:n.*169del
XM_017012091.1:c.*169del	XP_016867580.1:n.*169del
XM_017012092.1:c.*169del	XP_016867581.1:n.*169del
XM_017012093.2:c.*169del	XP_016867582.1:n.*169del
XR_001744658.2:n.1932del
XR_001744659.2:n.2045del
XR_001744660.2:n.1977del
XR_001744661.2:n.1892del
XR_927461.3:n.2130del
NM_000181.4:c.*169del MANE Select	NP_000172.2:n.*169del
NM_001284290.2:c.*169del	NP_001271219.1:n.*169del
NM_001293104.2:c.*169del	NP_001280033.1:n.*169del
NM_001293105.2:c.*169del	NP_001280034.1:n.*169del
NR_120531.2:n.2070del