Canonical Allele Identifier: CA2657617167

Gene: SH3YL1

Linked Data

• gnomAD v4: 2-263495-CGGCCCTTCCCTTCCGGGTGTGAGGGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263504_263531del , CM000664.2:g.263504_263531del	GRCh38
NC_000002.11:g.263504_263531del , CM000664.1:g.263504_263531del	GRCh37
NC_000002.10:g.253504_253531del	NCBI36
NG_012035.1:g.3636_3663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+461_1+488del MANE Select	ENSP00000348471.5:n.1+461_1+488del
ENST00000356150.9:c.1+461_1+488del	ENSP00000348471.5:n.1+461_1+488del
ENST00000402632.5:c.-155-737_-155-710del	ENSP00000384910.1:n.-155-737_-155-710del
ENST00000403658.5:c.-422+1259_-422+1286del	ENSP00000383928.1:n.-422+1259_-422+1286del
ENST00000403712.6:c.1+461_1+488del	ENSP00000384276.1:n.1+461_1+488del
ENST00000405430.5:c.-281-151_-281-124del	ENSP00000384269.1:n.-281-151_-281-124del
ENST00000415368.5:c.-313-155_-313-128del	ENSP00000410235.1:n.-313-155_-313-128del
ENST00000454318.1:c.-362+1259_-362+1286del	ENSP00000415723.1:n.-362+1259_-362+1286del
ENST00000462719.1:n.105+2771_106-2776del
ENST00000463865.5:n.309+561_309+588del
ENST00000465733.5:n.30-151_30-124del
ENST00000468321.5:n.42-737_42-710del
ENST00000471948.5:n.461_488del
ENST00000472861.1:n.30-151_30-124del
ENST00000475027.5:n.29+1259_29+1286del
ENST00000477707.5:n.228+41_228+68del
ENST00000488044.5:n.85+1259_85+1286del
ENST00000488979.6:n.27+1019_27+1046del
ENST00000626873.2:c.-556+621_-556+648del	ENSP00000485824.1:n.-556+621_-556+648del
NM_001159597.2:c.1+461_1+488del	NP_001153069.1:n.1+461_1+488del
NM_001282682.1:c.-422+1259_-422+1286del	NP_001269611.1:n.-422+1259_-422+1286del
NM_015677.3:c.1+461_1+488del	NP_056492.2:n.1+461_1+488del
NR_104223.1:n.42-737_42-710del
NR_104224.1:n.86-737_86-710del
NR_104225.1:n.309+561_309+588del
NM_015677.4:c.1+461_1+488del MANE Select	NP_056492.2:n.1+461_1+488del
NR_104224.2:n.44-737_44-710del
NM_001159597.3:c.1+461_1+488del	NP_001153069.1:n.1+461_1+488del
NM_001282682.2:c.-422+1259_-422+1286del	NP_001269611.1:n.-422+1259_-422+1286del
NR_104223.2:n.42-737_42-710del
NR_104224.3:n.44-737_44-710del