Canonical Allele Identifier: CA563537139
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1162783553
gnomAD v2: 5-148374155-GTGGTTAGATGGTTGGTTGGT-G
gnomAD v3: 5-148994592-GTGGTTAGATGGTTGGTTGGT-G
gnomAD v4: 5-148994592-GTGGTTAGATGGTTGGTTGGT-G
MyVariant Identifiers: chr5:g.148374156_148374175del (hg19) chr5:g.148994593_148994612del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994598_148994617del , CM000667.2:g.148994598_148994617del GRCh38
NC_000005.9:g.148374161_148374180del , CM000667.1:g.148374161_148374180del GRCh37
NC_000005.8:g.148354354_148354373del NCBI36
NG_007947.2:g.73563_73582del , LRG_269:g.73563_73582del

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10099_*10118del MANE Select ENSP00000423660.1:n.*10099_*10118del
ENST00000504690.5:c.*12+9114_*12+9133del ENSP00000425627.1:n.*12+9114_*12+9133del
ENST00000510350.1:n.231+12269_231+12288del
NM_024577.3:c.*10099_*10118del , LRG_269t1:c.*10099_*10118del NP_078853.2:n.*10099_*10118del
NM_024577.4:c.*10099_*10118del MANE Select NP_078853.2:n.*10099_*10118del
Search 100 bp 5'
Search 100 bp 3'