Canonical Allele Identifier: CA767229446

Gene: SH3YL1

Linked Data

• dbSNP Id: rs1260241539
• gnomAD v3: 2-263376-AAAG-A
• gnomAD v4: 2-263376-AAAG-A
• MyVariant Identifiers: chr2:g.263377_263379del (hg19) ; chr2:g.263377_263379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263380_263382del , CM000664.2:g.263380_263382del	GRCh38
NC_000002.11:g.263380_263382del , CM000664.1:g.263380_263382del	GRCh37
NC_000002.10:g.253380_253382del	NCBI36
NG_012035.1:g.3512_3514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+605_1+607del MANE Select	ENSP00000348471.5:n.1+605_1+607del
ENST00000356150.9:c.1+605_1+607del	ENSP00000348471.5:n.1+605_1+607del
ENST00000402632.5:c.-155-593_-155-591del	ENSP00000384910.1:n.-155-593_-155-591del
ENST00000403658.5:c.-422+1403_-422+1405del	ENSP00000383928.1:n.-422+1403_-422+1405del
ENST00000403712.6:c.1+605_1+607del	ENSP00000384276.1:n.1+605_1+607del
ENST00000405430.5:c.-281-7_-281-5del	ENSP00000384269.1:n.-281-7_-281-5del
ENST00000415368.5:c.-313-11_-313-9del	ENSP00000410235.1:n.-313-11_-313-9del
ENST00000454318.1:c.-362+1403_-362+1405del	ENSP00000415723.1:n.-362+1403_-362+1405del
ENST00000462719.1:n.106-2659_106-2657del
ENST00000463865.5:n.309+705_309+707del
ENST00000465733.5:n.30-7_30-5del
ENST00000468321.5:n.42-593_42-591del
ENST00000471948.5:n.605_607del
ENST00000472861.1:n.30-7_30-5del
ENST00000475027.5:n.29+1403_29+1405del
ENST00000477707.5:n.229-7_229-5del
ENST00000488044.5:n.85+1403_85+1405del
ENST00000488979.6:n.27+1163_27+1165del
ENST00000626873.2:c.-556+765_-556+767del	ENSP00000485824.1:n.-556+765_-556+767del
NM_001159597.2:c.1+605_1+607del	NP_001153069.1:n.1+605_1+607del
NM_001282682.1:c.-422+1403_-422+1405del	NP_001269611.1:n.-422+1403_-422+1405del
NM_015677.3:c.1+605_1+607del	NP_056492.2:n.1+605_1+607del
NR_104223.1:n.42-593_42-591del
NR_104224.1:n.86-593_86-591del
NR_104225.1:n.309+705_309+707del
NM_015677.4:c.1+605_1+607del MANE Select	NP_056492.2:n.1+605_1+607del
NR_104224.2:n.44-593_44-591del
NM_001159597.3:c.1+605_1+607del	NP_001153069.1:n.1+605_1+607del
NM_001282682.2:c.-422+1403_-422+1405del	NP_001269611.1:n.-422+1403_-422+1405del
NR_104223.2:n.42-593_42-591del
NR_104224.3:n.44-593_44-591del