Canonical Allele Identifier: CA41304521

Gene: SH3YL1

Linked Data

• dbSNP Id: rs537308790
• gnomAD v2: 2-263418-CAG-C
• gnomAD v3: 2-263418-CAG-C
• gnomAD v4: 2-263418-CAG-C
• MyVariant Identifiers: chr2:g.263419_263420del (hg19) ; chr2:g.263419_263420del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263423_263424del , CM000664.2:g.263423_263424del	GRCh38
NC_000002.11:g.263423_263424del , CM000664.1:g.263423_263424del	GRCh37
NC_000002.10:g.253423_253424del	NCBI36
NG_012035.1:g.3555_3556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+564_1+565del MANE Select	ENSP00000348471.5:n.1+564_1+565del
ENST00000356150.9:c.1+564_1+565del	ENSP00000348471.5:n.1+564_1+565del
ENST00000402632.5:c.-155-634_-155-633del	ENSP00000384910.1:n.-155-634_-155-633del
ENST00000403658.5:c.-422+1362_-422+1363del	ENSP00000383928.1:n.-422+1362_-422+1363del
ENST00000403712.6:c.1+564_1+565del	ENSP00000384276.1:n.1+564_1+565del
ENST00000405430.5:c.-281-48_-281-47del	ENSP00000384269.1:n.-281-48_-281-47del
ENST00000415368.5:c.-313-52_-313-51del	ENSP00000410235.1:n.-313-52_-313-51del
ENST00000454318.1:c.-362+1362_-362+1363del	ENSP00000415723.1:n.-362+1362_-362+1363del
ENST00000462719.1:n.106-2700_106-2699del
ENST00000463865.5:n.309+664_309+665del
ENST00000465733.5:n.30-48_30-47del
ENST00000468321.5:n.42-634_42-633del
ENST00000471948.5:n.564_565del
ENST00000472861.1:n.30-48_30-47del
ENST00000475027.5:n.29+1362_29+1363del
ENST00000477707.5:n.229-48_229-47del
ENST00000488044.5:n.85+1362_85+1363del
ENST00000488979.6:n.27+1122_27+1123del
ENST00000626873.2:c.-556+724_-556+725del	ENSP00000485824.1:n.-556+724_-556+725del
NM_001159597.2:c.1+564_1+565del	NP_001153069.1:n.1+564_1+565del
NM_001282682.1:c.-422+1362_-422+1363del	NP_001269611.1:n.-422+1362_-422+1363del
NM_015677.3:c.1+564_1+565del	NP_056492.2:n.1+564_1+565del
NR_104223.1:n.42-634_42-633del
NR_104224.1:n.86-634_86-633del
NR_104225.1:n.309+664_309+665del
NM_015677.4:c.1+564_1+565del MANE Select	NP_056492.2:n.1+564_1+565del
NR_104224.2:n.44-634_44-633del
NM_001159597.3:c.1+564_1+565del	NP_001153069.1:n.1+564_1+565del
NM_001282682.2:c.-422+1362_-422+1363del	NP_001269611.1:n.-422+1362_-422+1363del
NR_104223.2:n.42-634_42-633del
NR_104224.3:n.44-634_44-633del