Canonical Allele Identifier: CA1232982008
Gene: SH3YL1 HGNC NCBI

Linked Data

dbSNP Id: rs1669671600

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263305_263306del , CM000664.2:g.263305_263306del GRCh38
NC_000002.11:g.263305_263306del , CM000664.1:g.263305_263306del GRCh37
NC_000002.10:g.253305_253306del NCBI36
NG_012035.1:g.3437_3438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+678_1+679del MANE Select ENSP00000348471.5:n.1+678_1+679del
ENST00000356150.9:c.1+678_1+679del ENSP00000348471.5:n.1+678_1+679del
ENST00000402632.5:c.-155-520_-155-519del ENSP00000384910.1:n.-155-520_-155-519del
ENST00000403658.5:c.-422+1476_-422+1477del ENSP00000383928.1:n.-422+1476_-422+1477del
ENST00000403712.6:c.1+678_1+679del ENSP00000384276.1:n.1+678_1+679del
ENST00000405430.5:c.-215_-214del ENSP00000384269.1:n.-215_-214del
ENST00000415368.5:c.-251_-250del ENSP00000410235.1:n.-251_-250del
ENST00000454318.1:c.-362+1476_-362+1477del ENSP00000415723.1:n.-362+1476_-362+1477del
ENST00000462719.1:n.106-2586_106-2585del
ENST00000463865.5:n.309+778_309+779del
ENST00000465733.5:n.96_97del
ENST00000468321.5:n.42-520_42-519del
ENST00000471948.5:n.678_679del
ENST00000472861.1:n.96_97del
ENST00000475027.5:n.29+1476_29+1477del
ENST00000477707.5:n.295_296del
ENST00000488044.5:n.85+1476_85+1477del
ENST00000488979.6:n.27+1236_27+1237del
ENST00000626873.2:c.-556+838_-556+839del ENSP00000485824.1:n.-556+838_-556+839del
NM_001159597.2:c.1+678_1+679del NP_001153069.1:n.1+678_1+679del
NM_001282682.1:c.-422+1476_-422+1477del NP_001269611.1:n.-422+1476_-422+1477del
NM_015677.3:c.1+678_1+679del NP_056492.2:n.1+678_1+679del
NR_104223.1:n.42-520_42-519del
NR_104224.1:n.86-520_86-519del
NR_104225.1:n.309+778_309+779del
NM_015677.4:c.1+678_1+679del MANE Select NP_056492.2:n.1+678_1+679del
NR_104224.2:n.44-520_44-519del
NM_001159597.3:c.1+678_1+679del NP_001153069.1:n.1+678_1+679del
NM_001282682.2:c.-422+1476_-422+1477del NP_001269611.1:n.-422+1476_-422+1477del
NR_104223.2:n.42-520_42-519del
NR_104224.3:n.44-520_44-519del