Canonical Allele Identifier: CA1232981911
Gene: SH3YL1 HGNC NCBI

Linked Data

dbSNP Id: rs1669658548

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263149del , CM000664.2:g.263149del GRCh38
NC_000002.11:g.263149del , CM000664.1:g.263149del GRCh37
NC_000002.10:g.253149del NCBI36
NG_012035.1:g.3281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+839del MANE Select ENSP00000348471.5:n.1+839del
ENST00000356150.9:c.1+839del ENSP00000348471.5:n.1+839del
ENST00000402632.5:c.-155-359del ENSP00000384910.1:n.-155-359del
ENST00000403658.5:c.-422+1637del ENSP00000383928.1:n.-422+1637del
ENST00000403712.6:c.1+839del ENSP00000384276.1:n.1+839del
ENST00000405430.5:c.-120+66del ENSP00000384269.1:n.-120+66del
ENST00000415368.5:c.-156+66del ENSP00000410235.1:n.-156+66del
ENST00000454318.1:c.-362+1637del ENSP00000415723.1:n.-362+1637del
ENST00000462719.1:n.106-2425del
ENST00000463865.5:n.309+939del
ENST00000465733.5:n.191+66del
ENST00000468321.5:n.42-359del
ENST00000471948.5:n.773+66del
ENST00000472861.1:n.191+66del
ENST00000475027.5:n.29+1637del
ENST00000477707.5:n.390+66del
ENST00000488044.5:n.85+1637del
ENST00000488979.6:n.27+1397del
ENST00000626873.2:c.-556+999del ENSP00000485824.1:n.-556+999del
NM_001159597.2:c.1+839del NP_001153069.1:n.1+839del
NM_001282682.1:c.-422+1637del NP_001269611.1:n.-422+1637del
NM_015677.3:c.1+839del NP_056492.2:n.1+839del
NR_104223.1:n.42-359del
NR_104224.1:n.86-359del
NR_104225.1:n.309+939del
NM_015677.4:c.1+839del MANE Select NP_056492.2:n.1+839del
NR_104224.2:n.44-359del
NM_001159597.3:c.1+839del NP_001153069.1:n.1+839del
NM_001282682.2:c.-422+1637del NP_001269611.1:n.-422+1637del
NR_104223.2:n.42-359del
NR_104224.3:n.44-359del