Canonical Allele Identifier: CA1082791692
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1753473027
gnomAD v3: 5-148994583-GGTGGTTGGGTGGTT-G
gnomAD v4: 5-148994583-GGTGGTTGGGTGGTT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994584_148994597del , CM000667.2:g.148994584_148994597del GRCh38
NC_000005.9:g.148374147_148374160del , CM000667.1:g.148374147_148374160del GRCh37
NC_000005.8:g.148354340_148354353del NCBI36
NG_007947.2:g.73578_73591del , LRG_269:g.73578_73591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10114_*10127del MANE Select ENSP00000423660.1:n.*10114_*10127del
ENST00000504690.5:c.*12+9129_*12+9142del ENSP00000425627.1:n.*12+9129_*12+9142del
ENST00000510350.1:n.231+12284_231+12297del
NM_024577.3:c.*10114_*10127del , LRG_269t1:c.*10114_*10127del NP_078853.2:n.*10114_*10127del
NM_024577.4:c.*10114_*10127del MANE Select NP_078853.2:n.*10114_*10127del
Search 100 bp 5'
Search 100 bp 3'