Canonical Allele Identifier: CA2497061851

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2818838_2818841del , CM000666.2:g.2818838_2818841del	GRCh38
NC_000004.11:g.2820565_2820568del , CM000666.1:g.2820565_2820568del	GRCh37
NC_000004.10:g.2790363_2790366del	NCBI36
NG_011609.1:g.30816_30819del

Transcript Alleles

HGVS	Amino-acid Change
NM_001122681.2:c.-4-1776_-4-1773del MANE Select	NP_001116153.1:n.-4-1776_-4-1773del
ENST00000503393.8:c.-4-1776_-4-1773del MANE Select	ENSP00000422168.3:n.-4-1776_-4-1773del
NM_001122681.1:c.-4-1776_-4-1773del	NP_001116153.1:n.-4-1776_-4-1773del
NM_001145855.1:c.81-1776_81-1773del	NP_001139327.1:n.81-1776_81-1773del
NM_001145855.2:c.81-1776_81-1773del	NP_001139327.1:n.81-1776_81-1773del
NM_001145856.1:c.167+448_167+451del	NP_001139328.1:n.167+448_167+451del
NM_001145856.2:c.167+448_167+451del	NP_001139328.1:n.167+448_167+451del
NM_003023.4:c.-237_-234del	NP_003014.3:n.-237_-234del
ENST00000356331.9:c.-237_-234del	ENSP00000348685.5:n.-237_-234del
ENST00000435136.6:c.-4-1776_-4-1773del	ENSP00000403231.2:n.-4-1776_-4-1773del
ENST00000435136.8:c.81-1776_81-1773del	ENSP00000403231.3:n.81-1776_81-1773del
ENST00000442312.6:c.81-1776_81-1773del	ENSP00000388152.2:n.81-1776_81-1773del
ENST00000452765.6:c.-4-1776_-4-1773del	ENSP00000409746.2:n.-4-1776_-4-1773del
ENST00000502260.5:c.-4-1776_-4-1773del	ENSP00000425537.1:n.-4-1776_-4-1773del
ENST00000503219.5:c.-4-1776_-4-1773del	ENSP00000422796.1:n.-4-1776_-4-1773del
ENST00000503393.6:c.167+448_167+451del	ENSP00000422168.2:n.167+448_167+451del
ENST00000504294.5:c.-4-1776_-4-1773del	ENSP00000423275.1:n.-4-1776_-4-1773del
ENST00000508385.5:c.-4-1776_-4-1773del	ENSP00000424917.1:n.-4-1776_-4-1773del
ENST00000509677.5:n.123_126del
ENST00000510074.5:n.105-1776_105-1773del
ENST00000511185.5:n.178-1776_178-1773del
ENST00000511237.5:n.105-1776_105-1773del
ENST00000511663.5:n.52-1776_52-1773del
ENST00000511747.5:c.-5+448_-5+451del	ENSP00000424846.1:n.-5+448_-5+451del
ENST00000511747.6:c.167+448_167+451del	ENSP00000424846.2:n.167+448_167+451del
ENST00000512014.5:c.-4-1776_-4-1773del	ENSP00000424105.1:n.-4-1776_-4-1773del
ENST00000512131.5:n.68-1776_68-1773del
ENST00000513020.5:c.-4-1776_-4-1773del	ENSP00000424072.1:n.-4-1776_-4-1773del
ENST00000513095.5:c.-4-1776_-4-1773del	ENSP00000423823.1:n.-4-1776_-4-1773del
ENST00000515737.5:c.-237_-234del	ENSP00000422605.1:n.-237_-234del
XM_005247998.3:c.6-1776_6-1773del	XP_005248055.1:n.6-1776_6-1773del
XM_005247999.3:c.-4-1776_-4-1773del	XP_005248056.1:n.-4-1776_-4-1773del
XM_011513547.1:c.167+448_167+451del	XP_011511849.1:n.167+448_167+451del
XM_011513549.1:c.-4-1776_-4-1773del	XP_011511851.1:n.-4-1776_-4-1773del
XM_011513550.1:c.-4-1776_-4-1773del	XP_011511852.1:n.-4-1776_-4-1773del
XM_011513553.1:c.-762-1776_-762-1773del	XP_011511855.1:n.-762-1776_-762-1773del