Canonical Allele Identifier: CA253100
Community Standard Title: NM_000157.4(GBA1):c.533del (p.Pro178LeufsTer22)
Gene: GBA1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155238575del , CM000663.2:g.155238575del GRCh38
NC_000001.10:g.155208366del , CM000663.1:g.155208366del GRCh37
NC_000001.9:g.153474990del NCBI36
NG_009783.1:g.11126del

Transcript Alleles

HGVS Amino-acid Change
NM_000157.4:c.533del MANE Select NP_000148.2:p.Pro178LeufsTer22
ENST00000368373.8:c.533del MANE Select ENSP00000357357.3:p.Pro178LeufsTer22
NM_000157.3:c.533del NP_000148.2:p.Pro178LeufsTer22
NM_001005741.2:c.533del NP_001005741.1:p.Pro178LeufsTer22
NM_001005741.3:c.533del NP_001005741.1:p.Pro178LeufsTer22
NM_001005742.2:c.533del NP_001005742.1:p.Pro178LeufsTer22
NM_001005742.3:c.533del NP_001005742.1:p.Pro178LeufsTer22
NM_001171811.1:c.272del NP_001165282.1:p.Pro91LeufsTer22
NM_001171811.2:c.272del NP_001165282.1:p.Pro91LeufsTer22
NM_001171812.1:c.386del NP_001165283.1:p.Pro129LeufsTer22
NM_001171812.2:c.386del NP_001165283.1:p.Pro129LeufsTer22
ENST00000327247.9:c.533del ENSP00000314508.5:p.Pro178LeufsTer22
ENST00000368373.7:c.533del ENSP00000357357.3:p.Pro178LeufsTer22
ENST00000427500.7:c.386del ENSP00000402577.2:p.Pro129LeufsTer22
ENST00000428024.3:c.272del ENSP00000397986.2:p.Pro91LeufsTer22
ENST00000460156.1:n.320del
ENST00000473570.5:n.854del
ENST00000484489.5:n.339+1401del
ENST00000491081.5:n.138del
ENST00000493842.5:n.871del
ENST00000497670.5:n.156del
XM_006711270.1:c.533del XP_006711333.1:p.Pro178LeufsTer22
XM_011509407.1:c.533del XP_011507709.1:p.Pro178LeufsTer22
Search 100 bp 5'
Search 100 bp 3'