Canonical Allele Identifier: CA2683083250

Gene: GUSB

Linked Data

• gnomAD v4: 7-65982134-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982140_65982142del , CM000669.2:g.65982140_65982142del	GRCh38
NC_000007.13:g.65447127_65447129del , CM000669.1:g.65447127_65447129del	GRCh37
NC_000007.12:g.65084562_65084564del	NCBI36
NG_016197.1:g.5178_5180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.47_49del MANE Select	ENSP00000302728.4:p.Leu16del
ENST00000304895.8:c.47_49del	ENSP00000302728.4:p.Leu16del
ENST00000421103.5:c.47_49del	ENSP00000391390.1:p.Leu16del
ENST00000430730.5:c.47_49del	ENSP00000411859.1:p.Leu16del
ENST00000446111.1:c.47_49del	ENSP00000416793.1:p.Leu16del
ENST00000447929.5:c.47_49del	ENSP00000411262.1:p.Leu16del
NM_000181.3:c.47_49del	NP_000172.2:p.Leu16del
NM_001284290.1:c.47_49del	NP_001271219.1:p.Leu16del
NM_001293104.1:c.-339_-337del	NP_001280033.1:n.-339_-337del
NM_001293105.1:c.-283_-281del	NP_001280034.1:n.-283_-281del
NR_120531.1:n.178_180del
XM_005250297.3:c.47_49del	XP_005250354.1:p.Leu16del
XM_011516113.1:c.-283_-281del	XP_011514415.1:n.-283_-281del
XR_927461.1:n.173_175del
XM_005250297.4:c.47_49del	XP_005250354.1:p.Leu16del
XM_011516114.2:c.-639_-637del	XP_011514416.1:n.-639_-637del
XM_017012091.1:c.-283_-281del	XP_016867580.1:n.-283_-281del
XM_017012092.1:c.-339_-337del	XP_016867581.1:n.-339_-337del
XM_017012093.2:c.-639_-637del	XP_016867582.1:n.-639_-637del
XR_001744658.2:n.92_94del
XR_001744659.2:n.92_94del
XR_001744660.2:n.92_94del
XR_001744661.2:n.92_94del
XR_927461.3:n.92_94del
NM_000181.4:c.47_49del MANE Select	NP_000172.2:p.Leu16del
NM_001284290.2:c.47_49del	NP_001271219.1:p.Leu16del
NM_001293104.2:c.-339_-337del	NP_001280033.1:n.-339_-337del
NM_001293105.2:c.-283_-281del	NP_001280034.1:n.-283_-281del
NR_120531.2:n.77_79del