Canonical Allele Identifier: CA2683083247

Gene: GUSB

Linked Data

• gnomAD v4: 7-65982105-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982108del , CM000669.2:g.65982108del	GRCh38
NC_000007.13:g.65447095del , CM000669.1:g.65447095del	GRCh37
NC_000007.12:g.65084530del	NCBI36
NG_016197.1:g.5209del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.78del MANE Select	ENSP00000302728.4:p.Met27CysfsTer?
ENST00000304895.8:c.78del	ENSP00000302728.4:p.Met27CysfsTer?
ENST00000421103.5:c.78del	ENSP00000391390.1:p.Met27CysfsTer?
ENST00000430730.5:c.78del	ENSP00000411859.1:p.Met27CysfsTer?
ENST00000446111.1:c.78del	ENSP00000416793.1:p.Met27CysfsTer?
ENST00000447929.5:c.78del	ENSP00000411262.1:p.Met27CysfsTer?
NM_000181.3:c.78del	NP_000172.2:p.Met27CysfsTer?
NM_001284290.1:c.78del	NP_001271219.1:p.Met27CysfsTer?
NM_001293104.1:c.-308del	NP_001280033.1:n.-308del
NM_001293105.1:c.-252del	NP_001280034.1:n.-252del
NR_120531.1:n.209del
XM_005250297.3:c.78del	XP_005250354.1:p.Met27CysfsTer?
XM_011516113.1:c.-252del	XP_011514415.1:n.-252del
XR_927461.1:n.204del
XM_005250297.4:c.78del	XP_005250354.1:p.Met27CysfsTer?
XM_011516114.2:c.-608del	XP_011514416.1:n.-608del
XM_017012091.1:c.-252del	XP_016867580.1:n.-252del
XM_017012092.1:c.-308del	XP_016867581.1:n.-308del
XM_017012093.2:c.-608del	XP_016867582.1:n.-608del
XR_001744658.2:n.123del
XR_001744659.2:n.123del
XR_001744660.2:n.123del
XR_001744661.2:n.123del
XR_927461.3:n.123del
NM_000181.4:c.78del MANE Select	NP_000172.2:p.Met27CysfsTer?
NM_001284290.2:c.78del	NP_001271219.1:p.Met27CysfsTer?
NM_001293104.2:c.-308del	NP_001280033.1:n.-308del
NM_001293105.2:c.-252del	NP_001280034.1:n.-252del
NR_120531.2:n.108del