Canonical Allele Identifier: CA2657617052

Gene: SH3YL1

Linked Data

• gnomAD v4: 2-263396-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263398del , CM000664.2:g.263398del	GRCh38
NC_000002.11:g.263398del , CM000664.1:g.263398del	GRCh37
NC_000002.10:g.253398del	NCBI36
NG_012035.1:g.3530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+587del MANE Select	ENSP00000348471.5:n.1+587del
ENST00000356150.9:c.1+587del	ENSP00000348471.5:n.1+587del
ENST00000402632.5:c.-155-611del	ENSP00000384910.1:n.-155-611del
ENST00000403658.5:c.-422+1385del	ENSP00000383928.1:n.-422+1385del
ENST00000403712.6:c.1+587del	ENSP00000384276.1:n.1+587del
ENST00000405430.5:c.-281-25del	ENSP00000384269.1:n.-281-25del
ENST00000415368.5:c.-313-29del	ENSP00000410235.1:n.-313-29del
ENST00000454318.1:c.-362+1385del	ENSP00000415723.1:n.-362+1385del
ENST00000462719.1:n.106-2677del
ENST00000463865.5:n.309+687del
ENST00000465733.5:n.30-25del
ENST00000468321.5:n.42-611del
ENST00000471948.5:n.587del
ENST00000472861.1:n.30-25del
ENST00000475027.5:n.29+1385del
ENST00000477707.5:n.229-25del
ENST00000488044.5:n.85+1385del
ENST00000488979.6:n.27+1145del
ENST00000626873.2:c.-556+747del	ENSP00000485824.1:n.-556+747del
NM_001159597.2:c.1+587del	NP_001153069.1:n.1+587del
NM_001282682.1:c.-422+1385del	NP_001269611.1:n.-422+1385del
NM_015677.3:c.1+587del	NP_056492.2:n.1+587del
NR_104223.1:n.42-611del
NR_104224.1:n.86-611del
NR_104225.1:n.309+687del
NM_015677.4:c.1+587del MANE Select	NP_056492.2:n.1+587del
NR_104224.2:n.44-611del
NM_001159597.3:c.1+587del	NP_001153069.1:n.1+587del
NM_001282682.2:c.-422+1385del	NP_001269611.1:n.-422+1385del
NR_104223.2:n.42-611del
NR_104224.3:n.44-611del