Canonical Allele Identifier: CA2586973589

Gene: SH3BP2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.2831582_2831583delinsAT , CM000666.2:g.2831582_2831583delinsAT	GRCh38
NC_000004.11:g.2833309_2833310delinsAT , CM000666.1:g.2833309_2833310delinsAT	GRCh37
NC_000004.10:g.2803107_2803108delinsAT	NCBI36
NG_011609.1:g.43560_43561delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435136.8:c.1337_1338delinsAT	ENSP00000403231.3:p.Pro446His
ENST00000503393.8:c.1253_1254delinsAT MANE Select	ENSP00000422168.3:p.Pro418His
ENST00000511747.6:c.1424_1425delinsAT	ENSP00000424846.2:p.Pro475His
ENST00000356331.9:c.1253_1254delinsAT	ENSP00000348685.5:p.Pro418His
ENST00000435136.6:c.1253_1254delinsAT	ENSP00000403231.2:p.Pro418His
ENST00000442312.6:c.1337_1338delinsAT	ENSP00000388152.2:p.Pro446His
ENST00000452765.6:c.1253_1254delinsAT	ENSP00000409746.2:p.Pro418His
ENST00000503393.6:c.1424_1425delinsAT	ENSP00000422168.2:p.Pro475His
ENST00000504450.1:n.550_551delinsAT
ENST00000510204.5:n.1730_1731delinsAT
ENST00000511747.5:c.1253_1254delinsAT	ENSP00000424846.1:p.Pro418His
ENST00000513069.1:c.363_364delinsAT
ENST00000515737.5:c.*1138_*1139delinsAT	ENSP00000422605.1:n.*1138_*1139delinsAT
ENST00000515802.5:n.1359_1360delinsAT
NM_001122681.1:c.1253_1254delinsAT	NP_001116153.1:p.Pro418His
NM_001145855.1:c.1337_1338delinsAT	NP_001139327.1:p.Pro446His
NM_001145856.1:c.1424_1425delinsAT	NP_001139328.1:p.Pro475His
NM_003023.4:c.1253_1254delinsAT	NP_003014.3:p.Pro418His
XM_005247998.3:c.1262_1263delinsAT	XP_005248055.1:p.Pro421His
XM_005247999.3:c.1253_1254delinsAT	XP_005248056.1:p.Pro418His
XM_011513547.1:c.1424_1425delinsAT	XP_011511849.1:p.Pro475His
XM_011513548.1:c.1253_1254delinsAT	XP_011511850.1:p.Pro418His
XM_011513549.1:c.1253_1254delinsAT	XP_011511851.1:p.Pro418His
XM_011513550.1:c.1253_1254delinsAT	XP_011511852.1:p.Pro418His
XM_011513551.1:c.1253_1254delinsAT	XP_011511853.1:p.Pro418His
XM_011513552.1:c.1082_1083delinsAT	XP_011511854.1:p.Pro361His
XM_011513553.1:c.890_891delinsAT	XP_011511855.1:p.Pro297His
XM_011513554.1:c.598_599delinsAT	XP_011511856.1:p.Pro200Met
XM_011513555.1:c.598_599delinsAT	XP_011511857.1:p.Pro200Met
XM_011513556.1:c.598_599delinsAT	XP_011511858.1:p.Pro200Met
XR_924990.1:n.1257_1258delinsAT
NM_001122681.2:c.1253_1254delinsAT MANE Select	NP_001116153.1:p.Pro418His
NM_001145855.2:c.1337_1338delinsAT	NP_001139327.1:p.Pro446His
NM_001145856.2:c.1424_1425delinsAT	NP_001139328.1:p.Pro475His