Canonical Allele Identifier: CA1026719192

Gene: SH3YL1

Linked Data

• dbSNP Id: rs1669689814
• gnomAD v3: 2-263489-GGGGACCGGCCCTTCCCTTCCGGGTGTGA-G
• gnomAD v4: 2-263489-GGGGACCGGCCCTTCCCTTCCGGGTGTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263493_263520del , CM000664.2:g.263493_263520del	GRCh38
NC_000002.11:g.263493_263520del , CM000664.1:g.263493_263520del	GRCh37
NC_000002.10:g.253493_253520del	NCBI36
NG_012035.1:g.3625_3652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+467_1+494del MANE Select	ENSP00000348471.5:n.1+467_1+494del
ENST00000356150.9:c.1+467_1+494del	ENSP00000348471.5:n.1+467_1+494del
ENST00000402632.5:c.-155-731_-155-704del	ENSP00000384910.1:n.-155-731_-155-704del
ENST00000403658.5:c.-422+1265_-422+1292del	ENSP00000383928.1:n.-422+1265_-422+1292del
ENST00000403712.6:c.1+467_1+494del	ENSP00000384276.1:n.1+467_1+494del
ENST00000405430.5:c.-281-145_-281-118del	ENSP00000384269.1:n.-281-145_-281-118del
ENST00000415368.5:c.-313-149_-313-122del	ENSP00000410235.1:n.-313-149_-313-122del
ENST00000454318.1:c.-362+1265_-362+1292del	ENSP00000415723.1:n.-362+1265_-362+1292del
ENST00000462719.1:n.105+2777_106-2770del
ENST00000463865.5:n.309+567_309+594del
ENST00000465733.5:n.30-145_30-118del
ENST00000468321.5:n.42-731_42-704del
ENST00000471948.5:n.467_494del
ENST00000472861.1:n.30-145_30-118del
ENST00000475027.5:n.29+1265_29+1292del
ENST00000477707.5:n.228+47_228+74del
ENST00000488044.5:n.85+1265_85+1292del
ENST00000488979.6:n.27+1025_27+1052del
ENST00000626873.2:c.-556+627_-556+654del	ENSP00000485824.1:n.-556+627_-556+654del
NM_001159597.2:c.1+467_1+494del	NP_001153069.1:n.1+467_1+494del
NM_001282682.1:c.-422+1265_-422+1292del	NP_001269611.1:n.-422+1265_-422+1292del
NM_015677.3:c.1+467_1+494del	NP_056492.2:n.1+467_1+494del
NR_104223.1:n.42-731_42-704del
NR_104224.1:n.86-731_86-704del
NR_104225.1:n.309+567_309+594del
NM_015677.4:c.1+467_1+494del MANE Select	NP_056492.2:n.1+467_1+494del
NR_104224.2:n.44-731_44-704del
NM_001159597.3:c.1+467_1+494del	NP_001153069.1:n.1+467_1+494del
NM_001282682.2:c.-422+1265_-422+1292del	NP_001269611.1:n.-422+1265_-422+1292del
NR_104223.2:n.42-731_42-704del
NR_104224.3:n.44-731_44-704del