Canonical Allele Identifier: CA2630854718

Linked Data

gnomAD v4: 16-681601-G-GA

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681602dup , CM000678.2:g.681602dup GRCh38
NC_000016.9:g.731602dup , CM000678.1:g.731602dup GRCh37
NC_000016.8:g.671603dup NCBI36
NG_034141.1:g.6492dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.523dup (STUB1) MANE Select ENSP00000219548.4:p.Arg175LysfsTer13
ENST00000219548.8:c.523dup (STUB1) ENSP00000219548.4:p.Arg175LysfsTer13
ENST00000563505.5:n.619dup (STUB1)
ENST00000564316.1:c.122dup (STUB1)
ENST00000564370.5:c.307dup (STUB1) ENSP00000456875.1:p.Arg103LysfsTer13
ENST00000565677.5:c.307dup (STUB1) ENSP00000457228.1:p.Arg103LysfsTer13
ENST00000566181.2:n.292dup (STUB1)
ENST00000566408.5:c.240dup (STUB1)
ENST00000567173.5:c.466dup (STUB1) ENSP00000456591.1:p.Arg156LysfsTer13
ENST00000569248.5:n.1097dup (STUB1)
ENST00000620831.4:c.-50+38299dup (MSLN) ENSP00000482893.1:n.-50+38299dup
NM_001293197.1:c.307dup (STUB1) NP_001280126.1:p.Arg103LysfsTer13
NM_005861.3:c.523dup (STUB1) NP_005852.2:p.Arg175LysfsTer13
NM_005861.4:c.523dup (STUB1) MANE Select NP_005852.2:p.Arg175LysfsTer13
NM_001293197.2:c.307dup (STUB1) NP_001280126.1:p.Arg103LysfsTer13