Canonical Allele Identifier: CA2507582308
Gene: SH3YL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263523_263526del , CM000664.2:g.263523_263526del GRCh38
NC_000002.11:g.263523_263526del , CM000664.1:g.263523_263526del GRCh37
NC_000002.10:g.253523_253526del NCBI36
NG_012035.1:g.3655_3658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+461_1+464del MANE Select ENSP00000348471.5:n.1+461_1+464del
ENST00000356150.9:c.1+461_1+464del ENSP00000348471.5:n.1+461_1+464del
ENST00000402632.5:c.-155-737_-155-734del ENSP00000384910.1:n.-155-737_-155-734del
ENST00000403658.5:c.-422+1259_-422+1262del ENSP00000383928.1:n.-422+1259_-422+1262del
ENST00000403712.6:c.1+461_1+464del ENSP00000384276.1:n.1+461_1+464del
ENST00000405430.5:c.-281-151_-281-148del ENSP00000384269.1:n.-281-151_-281-148del
ENST00000415368.5:c.-313-155_-313-152del ENSP00000410235.1:n.-313-155_-313-152del
ENST00000454318.1:c.-362+1259_-362+1262del ENSP00000415723.1:n.-362+1259_-362+1262del
ENST00000462719.1:n.105+2771_105+2774del
ENST00000463865.5:n.309+561_309+564del
ENST00000465733.5:n.30-151_30-148del
ENST00000468321.5:n.42-737_42-734del
ENST00000471948.5:n.461_464del
ENST00000472861.1:n.30-151_30-148del
ENST00000475027.5:n.29+1259_29+1262del
ENST00000477707.5:n.228+41_228+44del
ENST00000488044.5:n.85+1259_85+1262del
ENST00000488979.6:n.27+1019_27+1022del
ENST00000626873.2:c.-556+621_-556+624del ENSP00000485824.1:n.-556+621_-556+624del
NM_001159597.2:c.1+461_1+464del NP_001153069.1:n.1+461_1+464del
NM_001282682.1:c.-422+1259_-422+1262del NP_001269611.1:n.-422+1259_-422+1262del
NM_015677.3:c.1+461_1+464del NP_056492.2:n.1+461_1+464del
NR_104223.1:n.42-737_42-734del
NR_104224.1:n.86-737_86-734del
NR_104225.1:n.309+561_309+564del
NM_015677.4:c.1+461_1+464del MANE Select NP_056492.2:n.1+461_1+464del
NR_104224.2:n.44-737_44-734del
NM_001159597.3:c.1+461_1+464del NP_001153069.1:n.1+461_1+464del
NM_001282682.2:c.-422+1259_-422+1262del NP_001269611.1:n.-422+1259_-422+1262del
NR_104223.2:n.42-737_42-734del
NR_104224.3:n.44-737_44-734del