Canonical Allele Identifier: CA1082791702

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753473394
• gnomAD v3: 5-148994592-GTGGTTAGA-G
• gnomAD v4: 5-148994592-GTGGTTAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148994598_148994605del , CM000667.2:g.148994598_148994605del	GRCh38
NC_000005.9:g.148374161_148374168del , CM000667.1:g.148374161_148374168del	GRCh37
NC_000005.8:g.148354354_148354361del	NCBI36
NG_007947.2:g.73575_73582del , LRG_269:g.73575_73582del

Transcript Alleles

HGVS	Amino-acid change
ENST00000515425.6:c.*10111_*10118del MANE Select	ENSP00000423660.1:n.*10111_*10118del
ENST00000504690.5:c.*12+9126_*12+9133del	ENSP00000425627.1:n.*12+9126_*12+9133del
ENST00000510350.1:n.231+12281_231+12288del
NM_024577.3:c.*10111_*10118del , LRG_269t1:c.*10111_*10118del	NP_078853.2:n.*10111_*10118del
NM_024577.4:c.*10111_*10118del MANE Select	NP_078853.2:n.*10111_*10118del