Canonical Allele Identifier: CA1590312551

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027682_149027683delinsAT , CM000667.2:g.149027682_149027683delinsAT	GRCh38
NC_000005.9:g.148407245_148407246delinsAT , CM000667.1:g.148407245_148407246delinsAT	GRCh37
NC_000005.8:g.148387438_148387439delinsAT	NCBI36
NG_007947.2:g.40492_40493delinsAT , LRG_269:g.40492_40493delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1945_1946delinsAT
ENST00000515425.6:c.2049_2050delinsAT MANE Select	ENSP00000423660.1:p.Lys683=
ENST00000675793.1:c.*1333_*1334delinsAT	ENSP00000502039.1:n.*1333_*1334delinsAT
ENST00000676056.1:c.*1559_*1560delinsAT	ENSP00000501827.1:n.*1559_*1560delinsAT
ENST00000323829.9:c.*1437_*1438delinsAT	ENSP00000313025.5:n.*1437_*1438delinsAT
ENST00000504517.5:c.1579_1580delinsAT	ENSP00000421779.1:n.1579_1580delinsAT
ENST00000504690.5:c.2049_2050delinsAT	ENSP00000425627.1:p.Lys683=
ENST00000510779.1:c.1099_1100delinsAT
ENST00000511307.5:c.*1829_*1830delinsAT	ENSP00000421420.1:n.*1829_*1830delinsAT
ENST00000512049.5:c.2028_2029delinsAT	ENSP00000421860.1:p.Lys676=
ENST00000513604.5:c.*1437_*1438delinsAT	ENSP00000423111.1:n.*1437_*1438delinsAT
ENST00000515425.5:c.2049_2050delinsAT	ENSP00000423660.1:p.Lys683=
NM_024577.3:c.2049_2050delinsAT , LRG_269t1:c.2049_2050delinsAT	NP_078853.2:p.Lys683=
NM_024577.4:c.2049_2050delinsAT MANE Select	NP_078853.2:p.Lys683=