Canonical Allele Identifier: CA1232982142
Gene: SH3YL1 HGNC NCBI

Linked Data

dbSNP Id: rs1669692114

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263510_263537del , CM000664.2:g.263510_263537del GRCh38
NC_000002.11:g.263510_263537del , CM000664.1:g.263510_263537del GRCh37
NC_000002.10:g.253510_253537del NCBI36
NG_012035.1:g.3642_3669del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+452_1+479del MANE Select ENSP00000348471.5:n.1+452_1+479del
ENST00000356150.9:c.1+452_1+479del ENSP00000348471.5:n.1+452_1+479del
ENST00000402632.5:c.-155-746_-155-719del ENSP00000384910.1:n.-155-746_-155-719del
ENST00000403658.5:c.-422+1250_-422+1277del ENSP00000383928.1:n.-422+1250_-422+1277del
ENST00000403712.6:c.1+452_1+479del ENSP00000384276.1:n.1+452_1+479del
ENST00000405430.5:c.-281-160_-281-133del ENSP00000384269.1:n.-281-160_-281-133del
ENST00000415368.5:c.-313-164_-313-137del ENSP00000410235.1:n.-313-164_-313-137del
ENST00000454318.1:c.-362+1250_-362+1277del ENSP00000415723.1:n.-362+1250_-362+1277del
ENST00000462719.1:n.105+2762_106-2785del
ENST00000463865.5:n.309+552_309+579del
ENST00000465733.5:n.30-160_30-133del
ENST00000468321.5:n.42-746_42-719del
ENST00000471948.5:n.452_479del
ENST00000472861.1:n.30-160_30-133del
ENST00000475027.5:n.29+1250_29+1277del
ENST00000477707.5:n.228+32_228+59del
ENST00000488044.5:n.85+1250_85+1277del
ENST00000488979.6:n.27+1010_27+1037del
ENST00000626873.2:c.-556+612_-556+639del ENSP00000485824.1:n.-556+612_-556+639del
NM_001159597.2:c.1+452_1+479del NP_001153069.1:n.1+452_1+479del
NM_001282682.1:c.-422+1250_-422+1277del NP_001269611.1:n.-422+1250_-422+1277del
NM_015677.3:c.1+452_1+479del NP_056492.2:n.1+452_1+479del
NR_104223.1:n.42-746_42-719del
NR_104224.1:n.86-746_86-719del
NR_104225.1:n.309+552_309+579del
NM_015677.4:c.1+452_1+479del MANE Select NP_056492.2:n.1+452_1+479del
NR_104224.2:n.44-746_44-719del
NM_001159597.3:c.1+452_1+479del NP_001153069.1:n.1+452_1+479del
NM_001282682.2:c.-422+1250_-422+1277del NP_001269611.1:n.-422+1250_-422+1277del
NR_104223.2:n.42-746_42-719del
NR_104224.3:n.44-746_44-719del