Canonical Allele Identifier: CA339986
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs80338924

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027986_149027987del , CM000667.2:g.149027986_149027987del GRCh38
NC_000005.9:g.148407549_148407550del , CM000667.1:g.148407549_148407550del GRCh37
NC_000005.8:g.148387742_148387743del NCBI36
NG_007947.2:g.40190_40191del , LRG_269:g.40190_40191del

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.1643_1644del
ENST00000515425.6:c.1747_1748del MANE Select ENSP00000423660.1:p.Arg583AlafsTer4
ENST00000675793.1:c.*1031_*1032del ENSP00000502039.1:n.*1031_*1032del
ENST00000676056.1:c.*1257_*1258del ENSP00000501827.1:n.*1257_*1258del
ENST00000323829.9:c.*1135_*1136del ENSP00000313025.5:n.*1135_*1136del
ENST00000504517.5:c.1277_1278del ENSP00000421779.1:n.1277_1278del
ENST00000504690.5:c.1747_1748del ENSP00000425627.1:p.Arg583AlafsTer4
ENST00000510779.1:c.797_798del
ENST00000511307.5:c.*1527_*1528del ENSP00000421420.1:n.*1527_*1528del
ENST00000512049.5:c.1726_1727del ENSP00000421860.1:p.Arg576AlafsTer4
ENST00000513604.5:c.*1135_*1136del ENSP00000423111.1:n.*1135_*1136del
ENST00000515425.5:c.1747_1748del ENSP00000423660.1:p.Arg583AlafsTer4
NM_024577.3:c.1747_1748del , LRG_269t1:c.1747_1748del NP_078853.2:p.Arg583AlafsTer4
NM_024577.4:c.1747_1748del MANE Select NP_078853.2:p.Arg583AlafsTer4