Canonical Allele Identifier: CA805483634

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1459195730
• MyVariant Identifiers: chr5:g.148374144_148374167del (hg19) ; chr5:g.148994581_148994604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148994584_148994607del , CM000667.2:g.148994584_148994607del	GRCh38
NC_000005.9:g.148374147_148374170del , CM000667.1:g.148374147_148374170del	GRCh37
NC_000005.8:g.148354340_148354363del	NCBI36
NG_007947.2:g.73571_73594del , LRG_269:g.73571_73594del

Transcript Alleles

HGVS	Amino-acid change
ENST00000515425.6:c.*10107_*10130del MANE Select	ENSP00000423660.1:n.*10107_*10130del
ENST00000504690.5:c.*12+9122_*12+9145del	ENSP00000425627.1:n.*12+9122_*12+9145del
ENST00000510350.1:n.231+12277_231+12300del
NM_024577.3:c.*10107_*10130del , LRG_269t1:c.*10107_*10130del	NP_078853.2:n.*10107_*10130del
NM_024577.4:c.*10107_*10130del MANE Select	NP_078853.2:n.*10107_*10130del