Canonical Allele Identifier: CA1232982048
Gene: SH3YL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263381_263382delinsAG , CM000664.2:g.263381_263382delinsAG GRCh38
NC_000002.11:g.263381_263382delinsAG , CM000664.1:g.263381_263382delinsAG GRCh37
NC_000002.10:g.253381_253382delinsAG NCBI36
NG_012035.1:g.3513_3514delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+602_1+603delinsCT MANE Select ENSP00000348471.5:n.1+602_1+603delinsCT
ENST00000356150.9:c.1+602_1+603delinsCT ENSP00000348471.5:n.1+602_1+603delinsCT
ENST00000402632.5:c.-155-596_-155-595delinsCT ENSP00000384910.1:n.-155-596_-155-595delinsCT
ENST00000403658.5:c.-422+1400_-422+1401delinsCT ENSP00000383928.1:n.-422+1400_-422+1401delinsCT
ENST00000403712.6:c.1+602_1+603delinsCT ENSP00000384276.1:n.1+602_1+603delinsCT
ENST00000405430.5:c.-281-10_-281-9delinsCT ENSP00000384269.1:n.-281-10_-281-9delinsCT
ENST00000415368.5:c.-313-14_-313-13delinsCT ENSP00000410235.1:n.-313-14_-313-13delinsCT
ENST00000454318.1:c.-362+1400_-362+1401delinsCT ENSP00000415723.1:n.-362+1400_-362+1401delinsCT
ENST00000462719.1:n.106-2662_106-2661delinsCT
ENST00000463865.5:n.309+702_309+703delinsCT
ENST00000465733.5:n.30-10_30-9delinsCT
ENST00000468321.5:n.42-596_42-595delinsCT
ENST00000471948.5:n.602_603delinsCT
ENST00000472861.1:n.30-10_30-9delinsCT
ENST00000475027.5:n.29+1400_29+1401delinsCT
ENST00000477707.5:n.229-10_229-9delinsCT
ENST00000488044.5:n.85+1400_85+1401delinsCT
ENST00000488979.6:n.27+1160_27+1161delinsCT
ENST00000626873.2:c.-556+762_-556+763delinsCT ENSP00000485824.1:n.-556+762_-556+763delinsCT
NM_001159597.2:c.1+602_1+603delinsCT NP_001153069.1:n.1+602_1+603delinsCT
NM_001282682.1:c.-422+1400_-422+1401delinsCT NP_001269611.1:n.-422+1400_-422+1401delinsCT
NM_015677.3:c.1+602_1+603delinsCT NP_056492.2:n.1+602_1+603delinsCT
NR_104223.1:n.42-596_42-595delinsCT
NR_104224.1:n.86-596_86-595delinsCT
NR_104225.1:n.309+702_309+703delinsCT
NM_015677.4:c.1+602_1+603delinsCT MANE Select NP_056492.2:n.1+602_1+603delinsCT
NR_104224.2:n.44-596_44-595delinsCT
NM_001159597.3:c.1+602_1+603delinsCT NP_001153069.1:n.1+602_1+603delinsCT
NM_001282682.2:c.-422+1400_-422+1401delinsCT NP_001269611.1:n.-422+1400_-422+1401delinsCT
NR_104223.2:n.42-596_42-595delinsCT
NR_104224.3:n.44-596_44-595delinsCT