Canonical Allele Identifier: CA2683077376

Gene: GUSB

Linked Data

• gnomAD v4: 7-65960783-CCAGGCCAGAAACGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960785_65960799del , CM000669.2:g.65960785_65960799del	GRCh38
NC_000007.13:g.65425772_65425786del , CM000669.1:g.65425772_65425786del	GRCh37
NC_000007.12:g.65063207_65063221del	NCBI36
NG_016197.1:g.26517_26531del
NG_051954.1:g.92687_92701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*99_*113del MANE Select	ENSP00000302728.4:n.*99_*113del
ENST00000304895.8:c.*99_*113del	ENSP00000302728.4:n.*99_*113del
ENST00000421103.5:c.*99_*113del	ENSP00000391390.1:n.*99_*113del
ENST00000430730.5:c.*1322_*1336del	ENSP00000411859.1:n.*1322_*1336del
ENST00000447929.5:c.*1435_*1449del	ENSP00000411262.1:n.*1435_*1449del
ENST00000466883.5:n.2445_2459del
NM_000181.3:c.*99_*113del	NP_000172.2:n.*99_*113del
NM_001284290.1:c.*99_*113del	NP_001271219.1:n.*99_*113del
NM_001293104.1:c.*99_*113del	NP_001280033.1:n.*99_*113del
NM_001293105.1:c.*99_*113del	NP_001280034.1:n.*99_*113del
NR_120531.1:n.2101_2115del
XM_005250297.3:c.*99_*113del	XP_005250354.1:n.*99_*113del
XM_011516113.1:c.*99_*113del	XP_011514415.1:n.*99_*113del
XM_011516114.1:c.*99_*113del	XP_011514416.1:n.*99_*113del
XM_005250297.4:c.*99_*113del	XP_005250354.1:n.*99_*113del
XM_011516114.2:c.*99_*113del	XP_011514416.1:n.*99_*113del
XM_017012091.1:c.*99_*113del	XP_016867580.1:n.*99_*113del
XM_017012092.1:c.*99_*113del	XP_016867581.1:n.*99_*113del
XM_017012093.2:c.*99_*113del	XP_016867582.1:n.*99_*113del
XR_001744658.2:n.1862_1876del
XR_001744659.2:n.1975_1989del
XR_001744660.2:n.1907_1921del
XR_001744661.2:n.1822_1836del
XR_927461.3:n.2060_2074del
NM_000181.4:c.*99_*113del MANE Select	NP_000172.2:n.*99_*113del
NM_001284290.2:c.*99_*113del	NP_001271219.1:n.*99_*113del
NM_001293104.2:c.*99_*113del	NP_001280033.1:n.*99_*113del
NM_001293105.2:c.*99_*113del	NP_001280034.1:n.*99_*113del
NR_120531.2:n.2000_2014del