Canonical Allele Identifier: CA2979879454
Community Standard Title: NM_001122681.2(SH3BP2):c.-4-1880_-4-1866dup
Gene: SH3BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2818734_2818748dup , CM000666.2:g.2818734_2818748dup GRCh38
NC_000004.11:g.2820461_2820475dup , CM000666.1:g.2820461_2820475dup GRCh37
NC_000004.10:g.2790259_2790273dup NCBI36
NG_011609.1:g.30712_30726dup

Transcript Alleles

HGVS Amino-acid Change
NM_001122681.2:c.-4-1880_-4-1866dup MANE Select NP_001116153.1:n.-4-1880_-4-1866dup
ENST00000503393.8:c.-4-1880_-4-1866dup MANE Select ENSP00000422168.3:n.-4-1880_-4-1866dup
NM_001122681.1:c.-4-1880_-4-1866dup NP_001116153.1:n.-4-1880_-4-1866dup
NM_001145855.1:c.81-1880_81-1866dup NP_001139327.1:n.81-1880_81-1866dup
NM_001145855.2:c.81-1880_81-1866dup NP_001139327.1:n.81-1880_81-1866dup
NM_001145856.1:c.167+344_167+358dup NP_001139328.1:n.167+344_167+358dup
NM_001145856.2:c.167+344_167+358dup NP_001139328.1:n.167+344_167+358dup
ENST00000435136.6:c.-4-1880_-4-1866dup ENSP00000403231.2:n.-4-1880_-4-1866dup
ENST00000435136.8:c.81-1880_81-1866dup ENSP00000403231.3:n.81-1880_81-1866dup
ENST00000442312.6:c.81-1880_81-1866dup ENSP00000388152.2:n.81-1880_81-1866dup
ENST00000452765.6:c.-4-1880_-4-1866dup ENSP00000409746.2:n.-4-1880_-4-1866dup
ENST00000502260.5:c.-4-1880_-4-1866dup ENSP00000425537.1:n.-4-1880_-4-1866dup
ENST00000503219.5:c.-4-1880_-4-1866dup ENSP00000422796.1:n.-4-1880_-4-1866dup
ENST00000503393.6:c.167+344_167+358dup ENSP00000422168.2:n.167+344_167+358dup
ENST00000504294.5:c.-4-1880_-4-1866dup ENSP00000423275.1:n.-4-1880_-4-1866dup
ENST00000508385.5:c.-4-1880_-4-1866dup ENSP00000424917.1:n.-4-1880_-4-1866dup
ENST00000509677.5:n.19_33dup
ENST00000510074.5:n.105-1880_105-1866dup
ENST00000511185.5:n.178-1880_178-1866dup
ENST00000511237.5:n.105-1880_105-1866dup
ENST00000511663.5:n.52-1880_52-1866dup
ENST00000511747.5:c.-5+344_-5+358dup ENSP00000424846.1:n.-5+344_-5+358dup
ENST00000511747.6:c.167+344_167+358dup ENSP00000424846.2:n.167+344_167+358dup
ENST00000512014.5:c.-4-1880_-4-1866dup ENSP00000424105.1:n.-4-1880_-4-1866dup
ENST00000512131.5:n.68-1880_68-1866dup
ENST00000513020.5:c.-4-1880_-4-1866dup ENSP00000424072.1:n.-4-1880_-4-1866dup
ENST00000513095.5:c.-4-1880_-4-1866dup ENSP00000423823.1:n.-4-1880_-4-1866dup
XM_005247998.3:c.6-1880_6-1866dup XP_005248055.1:n.6-1880_6-1866dup
XM_005247999.3:c.-4-1880_-4-1866dup XP_005248056.1:n.-4-1880_-4-1866dup
XM_011513547.1:c.167+344_167+358dup XP_011511849.1:n.167+344_167+358dup
XM_011513549.1:c.-4-1880_-4-1866dup XP_011511851.1:n.-4-1880_-4-1866dup
XM_011513550.1:c.-4-1880_-4-1866dup XP_011511852.1:n.-4-1880_-4-1866dup
XM_011513553.1:c.-762-1880_-762-1866dup XP_011511855.1:n.-762-1880_-762-1866dup