Canonical Allele Identifier: CA2630853875

Linked Data

gnomAD v4: 16-681329-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681331del , CM000678.2:g.681331del GRCh38
NC_000016.9:g.731331del , CM000678.1:g.731331del GRCh37
NC_000016.8:g.671332del NCBI36
NG_034141.1:g.6221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.339del (STUB1) MANE Select ENSP00000219548.4:p.Ile114SerfsTer16
ENST00000219548.8:c.339del (STUB1) ENSP00000219548.4:p.Ile114SerfsTer16
ENST00000563505.5:n.435del (STUB1)
ENST00000564370.5:c.123del (STUB1) ENSP00000456875.1:p.Ile42SerfsTer16
ENST00000565677.5:c.123del (STUB1) ENSP00000457228.1:p.Ile42SerfsTer16
ENST00000566181.2:n.108del (STUB1)
ENST00000566408.5:c.56del (STUB1)
ENST00000567173.5:c.282del (STUB1) ENSP00000456591.1:p.Ile95SerfsTer16
ENST00000567790.1:n.369del (STUB1)
ENST00000569248.5:n.913del (STUB1)
ENST00000620831.4:c.-50+38028del (MSLN) ENSP00000482893.1:n.-50+38028del
NM_001293197.1:c.123del (STUB1) NP_001280126.1:p.Ile42SerfsTer16
NM_005861.3:c.339del (STUB1) NP_005852.2:p.Ile114SerfsTer16
NM_005861.4:c.339del (STUB1) MANE Select NP_005852.2:p.Ile114SerfsTer16
NM_001293197.2:c.123del (STUB1) NP_001280126.1:p.Ile42SerfsTer16