Canonical Allele Identifier: CA1232982056
Gene: SH3YL1 HGNC NCBI

Linked Data

dbSNP Id: rs1669679257

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263390_263391del , CM000664.2:g.263390_263391del GRCh38
NC_000002.11:g.263390_263391del , CM000664.1:g.263390_263391del GRCh37
NC_000002.10:g.253390_253391del NCBI36
NG_012035.1:g.3522_3523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+594_1+595del MANE Select ENSP00000348471.5:n.1+594_1+595del
ENST00000356150.9:c.1+594_1+595del ENSP00000348471.5:n.1+594_1+595del
ENST00000402632.5:c.-155-604_-155-603del ENSP00000384910.1:n.-155-604_-155-603del
ENST00000403658.5:c.-422+1392_-422+1393del ENSP00000383928.1:n.-422+1392_-422+1393del
ENST00000403712.6:c.1+594_1+595del ENSP00000384276.1:n.1+594_1+595del
ENST00000405430.5:c.-281-18_-281-17del ENSP00000384269.1:n.-281-18_-281-17del
ENST00000415368.5:c.-313-22_-313-21del ENSP00000410235.1:n.-313-22_-313-21del
ENST00000454318.1:c.-362+1392_-362+1393del ENSP00000415723.1:n.-362+1392_-362+1393del
ENST00000462719.1:n.106-2670_106-2669del
ENST00000463865.5:n.309+694_309+695del
ENST00000465733.5:n.30-18_30-17del
ENST00000468321.5:n.42-604_42-603del
ENST00000471948.5:n.594_595del
ENST00000472861.1:n.30-18_30-17del
ENST00000475027.5:n.29+1392_29+1393del
ENST00000477707.5:n.229-18_229-17del
ENST00000488044.5:n.85+1392_85+1393del
ENST00000488979.6:n.27+1152_27+1153del
ENST00000626873.2:c.-556+754_-556+755del ENSP00000485824.1:n.-556+754_-556+755del
NM_001159597.2:c.1+594_1+595del NP_001153069.1:n.1+594_1+595del
NM_001282682.1:c.-422+1392_-422+1393del NP_001269611.1:n.-422+1392_-422+1393del
NM_015677.3:c.1+594_1+595del NP_056492.2:n.1+594_1+595del
NR_104223.1:n.42-604_42-603del
NR_104224.1:n.86-604_86-603del
NR_104225.1:n.309+694_309+695del
NM_015677.4:c.1+594_1+595del MANE Select NP_056492.2:n.1+594_1+595del
NR_104224.2:n.44-604_44-603del
NM_001159597.3:c.1+594_1+595del NP_001153069.1:n.1+594_1+595del
NM_001282682.2:c.-422+1392_-422+1393del NP_001269611.1:n.-422+1392_-422+1393del
NR_104223.2:n.42-604_42-603del
NR_104224.3:n.44-604_44-603del