Canonical Allele Identifier: CA1590312668

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027927_149027928delinsAG , CM000667.2:g.149027927_149027928delinsAG	GRCh38
NC_000005.9:g.148407490_148407491delinsAG , CM000667.1:g.148407490_148407491delinsAG	GRCh37
NC_000005.8:g.148387683_148387684delinsAG	NCBI36
NG_007947.2:g.40247_40248delinsCT , LRG_269:g.40247_40248delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1700_1701delinsCT
ENST00000515425.6:c.1804_1805delinsCT MANE Select	ENSP00000423660.1:p.Leu602=
ENST00000675793.1:c.*1088_*1089delinsCT	ENSP00000502039.1:n.*1088_*1089delinsCT
ENST00000676056.1:c.*1314_*1315delinsCT	ENSP00000501827.1:n.*1314_*1315delinsCT
ENST00000323829.9:c.*1192_*1193delinsCT	ENSP00000313025.5:n.*1192_*1193delinsCT
ENST00000504517.5:c.1334_1335delinsCT	ENSP00000421779.1:n.1334_1335delinsCT
ENST00000504690.5:c.1804_1805delinsCT	ENSP00000425627.1:p.Leu602=
ENST00000510779.1:c.854_855delinsCT
ENST00000511307.5:c.*1584_*1585delinsCT	ENSP00000421420.1:n.*1584_*1585delinsCT
ENST00000512049.5:c.1783_1784delinsCT	ENSP00000421860.1:p.Leu595=
ENST00000513604.5:c.*1192_*1193delinsCT	ENSP00000423111.1:n.*1192_*1193delinsCT
ENST00000515425.5:c.1804_1805delinsCT	ENSP00000423660.1:p.Leu602=
NM_024577.3:c.1804_1805delinsCT , LRG_269t1:c.1804_1805delinsCT	NP_078853.2:p.Leu602=
NM_024577.4:c.1804_1805delinsCT MANE Select	NP_078853.2:p.Leu602=