Canonical Allele Identifier: CA913108425

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149007053-GCCA-G
• MyVariant Identifiers: chr5:g.148386617_148386619del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007057_149007059del , CM000667.2:g.149007057_149007059del	GRCh38
NC_000005.9:g.148386620_148386622del , CM000667.1:g.148386620_148386622del	GRCh37
NC_000005.8:g.148366813_148366815del	NCBI36
NG_007947.2:g.61119_61121del , LRG_269:g.61119_61121del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4353_4355del
ENST00000515425.6:c.3500_3502del MANE Select	ENSP00000423660.1:p.Val1167del
ENST00000675793.1:c.*4557_*4559del	ENSP00000502039.1:n.*4557_*4559del
ENST00000323829.9:c.*2888_*2890del	ENSP00000313025.5:n.*2888_*2890del
ENST00000502274.1:c.86_88del	ENSP00000421092.1:p.Val29del
ENST00000504517.5:c.3022_3024del	ENSP00000421779.1:n.3022_3024del
ENST00000504690.5:c.3500_3502del	ENSP00000425627.1:p.Val1167del
ENST00000510350.1:n.56_58del
ENST00000510779.1:c.2550_2552del
ENST00000512049.5:c.3479_3481del	ENSP00000421860.1:p.Val1160del
ENST00000515229.5:n.162_164del
ENST00000515425.5:c.3500_3502del	ENSP00000423660.1:p.Val1167del
NM_024577.3:c.3500_3502del , LRG_269t1:c.3500_3502del	NP_078853.2:p.Val1167del
NM_024577.4:c.3500_3502del MANE Select	NP_078853.2:p.Val1167del