Canonical Allele Identifier: CA1590297725

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753473156

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148994587_148994588insAAGCGTTACACA , CM000667.2:g.148994587_148994588insAAGCGTTACACA	GRCh38
NC_000005.9:g.148374150_148374151insAAGCGTTACACA , CM000667.1:g.148374150_148374151insAAGCGTTACACA	GRCh37
NC_000005.8:g.148354343_148354344insAAGCGTTACACA	NCBI36
NG_007947.2:g.73587_73588insTGTGTAACGCTT , LRG_269:g.73587_73588insTGTGTAACGCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000515425.6:c.*10123_*10124insTGTGTAACGCTT MANE Select	ENSP00000423660.1:n.*10123_*10124insTGTGTAACGCTT
ENST00000504690.5:c.*12+9138_*12+9139insTGTGTAACGCTT	ENSP00000425627.1:n.*12+9138_*12+9139insTGTGTAACGCTT
ENST00000510350.1:n.231+12293_231+12294insTGTGTAACGCTT
NM_024577.3:c.*10123_*10124insTGTGTAACGCTT , LRG_269t1:c.*10123_*10124insTGTGTAACGCTT	NP_078853.2:n.*10123_*10124insTGTGTAACGCTT
NM_024577.4:c.*10123_*10124insTGTGTAACGCTT MANE Select	NP_078853.2:n.*10123_*10124insTGTGTAACGCTT