Canonical Allele Identifier: CA1590312627

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027834_149027835delinsGC , CM000667.2:g.149027834_149027835delinsGC	GRCh38
NC_000005.9:g.148407397_148407398delinsGC , CM000667.1:g.148407397_148407398delinsGC	GRCh37
NC_000005.8:g.148387590_148387591delinsGC	NCBI36
NG_007947.2:g.40340_40341delinsGC , LRG_269:g.40340_40341delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1793_1794delinsGC
ENST00000515425.6:c.1897_1898delinsGC MANE Select	ENSP00000423660.1:p.Ala633=
ENST00000675793.1:c.*1181_*1182delinsGC	ENSP00000502039.1:n.*1181_*1182delinsGC
ENST00000676056.1:c.*1407_*1408delinsGC	ENSP00000501827.1:n.*1407_*1408delinsGC
ENST00000323829.9:c.*1285_*1286delinsGC	ENSP00000313025.5:n.*1285_*1286delinsGC
ENST00000504517.5:c.1427_1428delinsGC	ENSP00000421779.1:n.1427_1428delinsGC
ENST00000504690.5:c.1897_1898delinsGC	ENSP00000425627.1:p.Ala633=
ENST00000510779.1:c.947_948delinsGC
ENST00000511307.5:c.*1677_*1678delinsGC	ENSP00000421420.1:n.*1677_*1678delinsGC
ENST00000512049.5:c.1876_1877delinsGC	ENSP00000421860.1:p.Ala626=
ENST00000513604.5:c.*1285_*1286delinsGC	ENSP00000423111.1:n.*1285_*1286delinsGC
ENST00000515425.5:c.1897_1898delinsGC	ENSP00000423660.1:p.Ala633=
NM_024577.3:c.1897_1898delinsGC , LRG_269t1:c.1897_1898delinsGC	NP_078853.2:p.Ala633=
NM_024577.4:c.1897_1898delinsGC MANE Select	NP_078853.2:p.Ala633=