Canonical Allele Identifier: CA2657617134

Gene: SH3YL1

Linked Data

• gnomAD v4: 2-263471-CCCGGCGCCAGGTGTTGGGGGGACCGGCCCTTCCCTTCCGGGTGTGAGGGGCTGGCCCTTCTCTTCCAGGTTGGGGGGCTGGCAAACTCGAACCTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.263480_263575del , CM000664.2:g.263480_263575del	GRCh38
NC_000002.11:g.263480_263575del , CM000664.1:g.263480_263575del	GRCh37
NC_000002.10:g.253480_253575del	NCBI36
NG_012035.1:g.3612_3707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356150.10:c.1+417_1+512del MANE Select	ENSP00000348471.5:n.1+417_1+512del
ENST00000356150.9:c.1+417_1+512del	ENSP00000348471.5:n.1+417_1+512del
ENST00000402632.5:c.-155-781_-155-686del	ENSP00000384910.1:n.-155-781_-155-686del
ENST00000403658.5:c.-422+1215_-422+1310del	ENSP00000383928.1:n.-422+1215_-422+1310del
ENST00000403712.6:c.1+417_1+512del	ENSP00000384276.1:n.1+417_1+512del
ENST00000405430.5:c.-281-195_-281-100del	ENSP00000384269.1:n.-281-195_-281-100del
ENST00000415368.5:c.-313-199_-313-104del	ENSP00000410235.1:n.-313-199_-313-104del
ENST00000454318.1:c.-362+1215_-362+1310del	ENSP00000415723.1:n.-362+1215_-362+1310del
ENST00000462719.1:n.105+2727_106-2752del
ENST00000463865.5:n.309+517_309+612del
ENST00000465733.5:n.30-195_30-100del
ENST00000468321.5:n.42-781_42-686del
ENST00000471948.5:n.417_512del
ENST00000472861.1:n.30-195_30-100del
ENST00000475027.5:n.29+1215_29+1310del
ENST00000477707.5:n.225_228+92del
ENST00000488044.5:n.85+1215_85+1310del
ENST00000488979.6:n.27+975_27+1070del
ENST00000626873.2:c.-556+577_-556+672del	ENSP00000485824.1:n.-556+577_-556+672del
NM_001159597.2:c.1+417_1+512del	NP_001153069.1:n.1+417_1+512del
NM_001282682.1:c.-422+1215_-422+1310del	NP_001269611.1:n.-422+1215_-422+1310del
NM_015677.3:c.1+417_1+512del	NP_056492.2:n.1+417_1+512del
NR_104223.1:n.42-781_42-686del
NR_104224.1:n.86-781_86-686del
NR_104225.1:n.309+517_309+612del
NM_015677.4:c.1+417_1+512del MANE Select	NP_056492.2:n.1+417_1+512del
NR_104224.2:n.44-781_44-686del
NM_001159597.3:c.1+417_1+512del	NP_001153069.1:n.1+417_1+512del
NM_001282682.2:c.-422+1215_-422+1310del	NP_001269611.1:n.-422+1215_-422+1310del
NR_104223.2:n.42-781_42-686del
NR_104224.3:n.44-781_44-686del