Canonical Allele Identifier: CA530355946

Gene: SH3YL1

Linked Data

• dbSNP Id: rs1428307821
• gnomAD v2: 2-263426-ACCCGTGCTCGCCGCGAC-A
• gnomAD v3: 2-263426-ACCCGTGCTCGCCGCGAC-A
• gnomAD v4: 2-263426-ACCCGTGCTCGCCGCGAC-A
• MyVariant Identifiers: chr2:g.263427_263443del (hg19) ; chr2:g.263427_263443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263431_263447del , CM000664.2:g.263431_263447del	GRCh38
NC_000002.11:g.263431_263447del , CM000664.1:g.263431_263447del	GRCh37
NC_000002.10:g.253431_253447del	NCBI36
NG_012035.1:g.3563_3579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+541_1+557del MANE Select	ENSP00000348471.5:n.1+541_1+557del
ENST00000356150.9:c.1+541_1+557del	ENSP00000348471.5:n.1+541_1+557del
ENST00000402632.5:c.-155-657_-155-641del	ENSP00000384910.1:n.-155-657_-155-641del
ENST00000403658.5:c.-422+1339_-422+1355del	ENSP00000383928.1:n.-422+1339_-422+1355del
ENST00000403712.6:c.1+541_1+557del	ENSP00000384276.1:n.1+541_1+557del
ENST00000405430.5:c.-281-71_-281-55del	ENSP00000384269.1:n.-281-71_-281-55del
ENST00000415368.5:c.-313-75_-313-59del	ENSP00000410235.1:n.-313-75_-313-59del
ENST00000454318.1:c.-362+1339_-362+1355del	ENSP00000415723.1:n.-362+1339_-362+1355del
ENST00000462719.1:n.106-2723_106-2707del
ENST00000463865.5:n.309+641_309+657del
ENST00000465733.5:n.30-71_30-55del
ENST00000468321.5:n.42-657_42-641del
ENST00000471948.5:n.541_557del
ENST00000472861.1:n.30-71_30-55del
ENST00000475027.5:n.29+1339_29+1355del
ENST00000477707.5:n.229-71_229-55del
ENST00000488044.5:n.85+1339_85+1355del
ENST00000488979.6:n.27+1099_27+1115del
ENST00000626873.2:c.-556+701_-556+717del	ENSP00000485824.1:n.-556+701_-556+717del
NM_001159597.2:c.1+541_1+557del	NP_001153069.1:n.1+541_1+557del
NM_001282682.1:c.-422+1339_-422+1355del	NP_001269611.1:n.-422+1339_-422+1355del
NM_015677.3:c.1+541_1+557del	NP_056492.2:n.1+541_1+557del
NR_104223.1:n.42-657_42-641del
NR_104224.1:n.86-657_86-641del
NR_104225.1:n.309+641_309+657del
NM_015677.4:c.1+541_1+557del MANE Select	NP_056492.2:n.1+541_1+557del
NR_104224.2:n.44-657_44-641del
NM_001159597.3:c.1+541_1+557del	NP_001153069.1:n.1+541_1+557del
NM_001282682.2:c.-422+1339_-422+1355del	NP_001269611.1:n.-422+1339_-422+1355del
NR_104223.2:n.42-657_42-641del
NR_104224.3:n.44-657_44-641del