Canonical Allele Identifier: CA2657617099
Gene: SH3YL1 HGNC NCBI

Linked Data

gnomAD v4: 2-263446-CG-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263447del , CM000664.2:g.263447del GRCh38
NC_000002.11:g.263447del , CM000664.1:g.263447del GRCh37
NC_000002.10:g.253447del NCBI36
NG_012035.1:g.3579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+537del MANE Select ENSP00000348471.5:n.1+537del
ENST00000356150.9:c.1+537del ENSP00000348471.5:n.1+537del
ENST00000402632.5:c.-155-661del ENSP00000384910.1:n.-155-661del
ENST00000403658.5:c.-422+1335del ENSP00000383928.1:n.-422+1335del
ENST00000403712.6:c.1+537del ENSP00000384276.1:n.1+537del
ENST00000405430.5:c.-281-75del ENSP00000384269.1:n.-281-75del
ENST00000415368.5:c.-313-79del ENSP00000410235.1:n.-313-79del
ENST00000454318.1:c.-362+1335del ENSP00000415723.1:n.-362+1335del
ENST00000462719.1:n.106-2727del
ENST00000463865.5:n.309+637del
ENST00000465733.5:n.30-75del
ENST00000468321.5:n.42-661del
ENST00000471948.5:n.537del
ENST00000472861.1:n.30-75del
ENST00000475027.5:n.29+1335del
ENST00000477707.5:n.229-75del
ENST00000488044.5:n.85+1335del
ENST00000488979.6:n.27+1095del
ENST00000626873.2:c.-556+697del ENSP00000485824.1:n.-556+697del
NM_001159597.2:c.1+537del NP_001153069.1:n.1+537del
NM_001282682.1:c.-422+1335del NP_001269611.1:n.-422+1335del
NM_015677.3:c.1+537del NP_056492.2:n.1+537del
NR_104223.1:n.42-661del
NR_104224.1:n.86-661del
NR_104225.1:n.309+637del
NM_015677.4:c.1+537del MANE Select NP_056492.2:n.1+537del
NR_104224.2:n.44-661del
NM_001159597.3:c.1+537del NP_001153069.1:n.1+537del
NM_001282682.2:c.-422+1335del NP_001269611.1:n.-422+1335del
NR_104223.2:n.42-661del
NR_104224.3:n.44-661del