Canonical Allele Identifier: CA2630853933

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681355_681358dup , CM000678.2:g.681355_681358dup GRCh38
NC_000016.9:g.731355_731358dup , CM000678.1:g.731355_731358dup GRCh37
NC_000016.8:g.671356_671359dup NCBI36
NG_034141.1:g.6245_6248dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.358+5_358+8dup (STUB1) MANE Select ENSP00000219548.4:n.358+5_358+8dup
ENST00000219548.8:c.358+5_358+8dup (STUB1) ENSP00000219548.4:n.358+5_358+8dup
ENST00000563505.5:n.454+5_454+8dup (STUB1)
ENST00000564370.5:c.142+5_142+8dup (STUB1) ENSP00000456875.1:n.142+5_142+8dup
ENST00000565677.5:c.142+5_142+8dup (STUB1) ENSP00000457228.1:n.142+5_142+8dup
ENST00000566181.2:n.127+5_127+8dup (STUB1)
ENST00000566408.5:c.75+5_75+8dup (STUB1)
ENST00000567173.5:c.301+5_301+8dup (STUB1) ENSP00000456591.1:n.301+5_301+8dup
ENST00000567790.1:n.393_396dup (STUB1)
ENST00000569248.5:n.932+5_932+8dup (STUB1)
ENST00000620831.4:c.-50+38052_-50+38055dup (MSLN) ENSP00000482893.1:n.-50+38052_-50+38055dup
NM_001293197.1:c.142+5_142+8dup (STUB1) NP_001280126.1:n.142+5_142+8dup
NM_005861.3:c.358+5_358+8dup (STUB1) NP_005852.2:n.358+5_358+8dup
NM_005861.4:c.358+5_358+8dup (STUB1) MANE Select NP_005852.2:n.358+5_358+8dup
NM_001293197.2:c.142+5_142+8dup (STUB1) NP_001280126.1:n.142+5_142+8dup