Canonical Allele Identifier: CA2630854021

Linked Data

gnomAD v4: 16-681384-T-TG

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681388dup , CM000678.2:g.681388dup GRCh38
NC_000016.9:g.731388dup , CM000678.1:g.731388dup GRCh37
NC_000016.8:g.671389dup NCBI36
NG_034141.1:g.6278dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.358+38dup (STUB1) MANE Select ENSP00000219548.4:n.358+38dup
ENST00000219548.8:c.358+38dup (STUB1) ENSP00000219548.4:n.358+38dup
ENST00000563505.5:n.454+38dup (STUB1)
ENST00000564370.5:c.142+38dup (STUB1) ENSP00000456875.1:n.142+38dup
ENST00000565677.5:c.142+38dup (STUB1) ENSP00000457228.1:n.142+38dup
ENST00000566181.2:n.127+38dup (STUB1)
ENST00000566408.5:c.75+38dup (STUB1)
ENST00000567173.5:c.301+38dup (STUB1) ENSP00000456591.1:n.301+38dup
ENST00000567790.1:n.426dup (STUB1)
ENST00000569248.5:n.932+38dup (STUB1)
ENST00000620831.4:c.-50+38085dup (MSLN) ENSP00000482893.1:n.-50+38085dup
NM_001293197.1:c.142+38dup (STUB1) NP_001280126.1:n.142+38dup
NM_005861.3:c.358+38dup (STUB1) NP_005852.2:n.358+38dup
NM_005861.4:c.358+38dup (STUB1) MANE Select NP_005852.2:n.358+38dup
NM_001293197.2:c.142+38dup (STUB1) NP_001280126.1:n.142+38dup