Canonical Allele Identifier: CA2657617095

Gene: SH3YL1

Linked Data

• gnomAD v4: 2-263442-A-ACCCCGCGCTCGCCCTGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263450_263468dup , CM000664.2:g.263450_263468dup	GRCh38
NC_000002.11:g.263450_263468dup , CM000664.1:g.263450_263468dup	GRCh37
NC_000002.10:g.253450_253468dup	NCBI36
NG_012035.1:g.3582_3600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+523_1+541dup MANE Select	ENSP00000348471.5:n.1+523_1+541dup
ENST00000356150.9:c.1+523_1+541dup	ENSP00000348471.5:n.1+523_1+541dup
ENST00000402632.5:c.-155-675_-155-657dup	ENSP00000384910.1:n.-155-675_-155-657dup
ENST00000403658.5:c.-422+1321_-422+1339dup	ENSP00000383928.1:n.-422+1321_-422+1339dup
ENST00000403712.6:c.1+523_1+541dup	ENSP00000384276.1:n.1+523_1+541dup
ENST00000405430.5:c.-281-89_-281-71dup	ENSP00000384269.1:n.-281-89_-281-71dup
ENST00000415368.5:c.-313-93_-313-75dup	ENSP00000410235.1:n.-313-93_-313-75dup
ENST00000454318.1:c.-362+1321_-362+1339dup	ENSP00000415723.1:n.-362+1321_-362+1339dup
ENST00000462719.1:n.106-2741_106-2723dup
ENST00000463865.5:n.309+623_309+641dup
ENST00000465733.5:n.30-89_30-71dup
ENST00000468321.5:n.42-675_42-657dup
ENST00000471948.5:n.523_541dup
ENST00000472861.1:n.30-89_30-71dup
ENST00000475027.5:n.29+1321_29+1339dup
ENST00000477707.5:n.229-89_229-71dup
ENST00000488044.5:n.85+1321_85+1339dup
ENST00000488979.6:n.27+1081_27+1099dup
ENST00000626873.2:c.-556+683_-556+701dup	ENSP00000485824.1:n.-556+683_-556+701dup
NM_001159597.2:c.1+523_1+541dup	NP_001153069.1:n.1+523_1+541dup
NM_001282682.1:c.-422+1321_-422+1339dup	NP_001269611.1:n.-422+1321_-422+1339dup
NM_015677.3:c.1+523_1+541dup	NP_056492.2:n.1+523_1+541dup
NR_104223.1:n.42-675_42-657dup
NR_104224.1:n.86-675_86-657dup
NR_104225.1:n.309+623_309+641dup
NM_015677.4:c.1+523_1+541dup MANE Select	NP_056492.2:n.1+523_1+541dup
NR_104224.2:n.44-675_44-657dup
NM_001159597.3:c.1+523_1+541dup	NP_001153069.1:n.1+523_1+541dup
NM_001282682.2:c.-422+1321_-422+1339dup	NP_001269611.1:n.-422+1321_-422+1339dup
NR_104223.2:n.42-675_42-657dup
NR_104224.3:n.44-675_44-657dup