Canonical Allele Identifier: CA2683077277

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960711-CTTTATTTCCATAATAGAAAATCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960722_65960744del , CM000669.2:g.65960722_65960744del	GRCh38
NC_000007.13:g.65425709_65425731del , CM000669.1:g.65425709_65425731del	GRCh37
NC_000007.12:g.65063144_65063166del	NCBI36
NG_016197.1:g.26581_26603del
NG_051954.1:g.92624_92646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.*163_*185del MANE Select	ENSP00000302728.4:n.*163_*185del
ENST00000304895.8:c.*163_*185del	ENSP00000302728.4:n.*163_*185del
ENST00000421103.5:c.*163_*185del	ENSP00000391390.1:n.*163_*185del
ENST00000430730.5:c.*1386_*1408del	ENSP00000411859.1:n.*1386_*1408del
ENST00000447929.5:c.*1499_*1521del	ENSP00000411262.1:n.*1499_*1521del
ENST00000466883.5:n.2509_2531del
NM_000181.3:c.*163_*185del	NP_000172.2:n.*163_*185del
NM_001284290.1:c.*163_*185del	NP_001271219.1:n.*163_*185del
NM_001293104.1:c.*163_*185del	NP_001280033.1:n.*163_*185del
NM_001293105.1:c.*163_*185del	NP_001280034.1:n.*163_*185del
NR_120531.1:n.2165_2187del
XM_005250297.3:c.*163_*185del	XP_005250354.1:n.*163_*185del
XM_011516113.1:c.*163_*185del	XP_011514415.1:n.*163_*185del
XM_011516114.1:c.*163_*185del	XP_011514416.1:n.*163_*185del
XM_005250297.4:c.*163_*185del	XP_005250354.1:n.*163_*185del
XM_011516114.2:c.*163_*185del	XP_011514416.1:n.*163_*185del
XM_017012091.1:c.*163_*185del	XP_016867580.1:n.*163_*185del
XM_017012092.1:c.*163_*185del	XP_016867581.1:n.*163_*185del
XM_017012093.2:c.*163_*185del	XP_016867582.1:n.*163_*185del
XR_001744658.2:n.1926_1948del
XR_001744659.2:n.2039_2061del
XR_001744660.2:n.1971_1993del
XR_001744661.2:n.1886_1908del
XR_927461.3:n.2124_2146del
NM_000181.4:c.*163_*185del MANE Select	NP_000172.2:n.*163_*185del
NM_001284290.2:c.*163_*185del	NP_001271219.1:n.*163_*185del
NM_001293104.2:c.*163_*185del	NP_001280033.1:n.*163_*185del
NM_001293105.2:c.*163_*185del	NP_001280034.1:n.*163_*185del
NR_120531.2:n.2064_2086del