Canonical Allele Identifier: CA2748574096
Gene: SH3YL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263533_263534insATCTC , CM000664.2:g.263533_263534insATCTC GRCh38
NC_000002.11:g.263533_263534insATCTC , CM000664.1:g.263533_263534insATCTC GRCh37
NC_000002.10:g.253533_253534insATCTC NCBI36
NG_012035.1:g.3665_3666insATCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+454_1+455insTGAGA MANE Select ENSP00000348471.5:n.1+454_1+455insTGAGA
ENST00000356150.9:c.1+454_1+455insTGAGA ENSP00000348471.5:n.1+454_1+455insTGAGA
ENST00000402632.5:c.-155-744_-155-743insTGAGA ENSP00000384910.1:n.-155-744_-155-743insTGAGA
ENST00000403658.5:c.-422+1252_-422+1253insTGAGA ENSP00000383928.1:n.-422+1252_-422+1253insTGAGA
ENST00000403712.6:c.1+454_1+455insTGAGA ENSP00000384276.1:n.1+454_1+455insTGAGA
ENST00000405430.5:c.-281-158_-281-157insTGAGA ENSP00000384269.1:n.-281-158_-281-157insTGAGA
ENST00000415368.5:c.-313-162_-313-161insTGAGA ENSP00000410235.1:n.-313-162_-313-161insTGAGA
ENST00000454318.1:c.-362+1252_-362+1253insTGAGA ENSP00000415723.1:n.-362+1252_-362+1253insTGAGA
ENST00000462719.1:n.105+2764_105+2765insTGAGA
ENST00000463865.5:n.309+554_309+555insTGAGA
ENST00000465733.5:n.30-158_30-157insTGAGA
ENST00000468321.5:n.42-744_42-743insTGAGA
ENST00000471948.5:n.454_455insTGAGA
ENST00000472861.1:n.30-158_30-157insTGAGA
ENST00000475027.5:n.29+1252_29+1253insTGAGA
ENST00000477707.5:n.228+34_228+35insTGAGA
ENST00000488044.5:n.85+1252_85+1253insTGAGA
ENST00000488979.6:n.27+1012_27+1013insTGAGA
ENST00000626873.2:c.-556+614_-556+615insTGAGA ENSP00000485824.1:n.-556+614_-556+615insTGAGA
NM_001159597.2:c.1+454_1+455insTGAGA NP_001153069.1:n.1+454_1+455insTGAGA
NM_001282682.1:c.-422+1252_-422+1253insTGAGA NP_001269611.1:n.-422+1252_-422+1253insTGAGA
NM_015677.3:c.1+454_1+455insTGAGA NP_056492.2:n.1+454_1+455insTGAGA
NR_104223.1:n.42-744_42-743insTGAGA
NR_104224.1:n.86-744_86-743insTGAGA
NR_104225.1:n.309+554_309+555insTGAGA
NM_015677.4:c.1+454_1+455insTGAGA MANE Select NP_056492.2:n.1+454_1+455insTGAGA
NR_104224.2:n.44-744_44-743insTGAGA
NM_001159597.3:c.1+454_1+455insTGAGA NP_001153069.1:n.1+454_1+455insTGAGA
NM_001282682.2:c.-422+1252_-422+1253insTGAGA NP_001269611.1:n.-422+1252_-422+1253insTGAGA
NR_104223.2:n.42-744_42-743insTGAGA
NR_104224.3:n.44-744_44-743insTGAGA