Canonical Allele Identifier: CA1590297845
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1753477470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994695_148994738del , CM000667.2:g.148994695_148994738del GRCh38
NC_000005.9:g.148374258_148374301del , CM000667.1:g.148374258_148374301del GRCh37
NC_000005.8:g.148354451_148354494del NCBI36
NG_007947.2:g.73448_73491del , LRG_269:g.73448_73491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*9984_*10027del MANE Select ENSP00000423660.1:n.*9984_*10027del
ENST00000504690.5:c.*12+8999_*12+9042del ENSP00000425627.1:n.*12+8999_*12+9042del
ENST00000510350.1:n.231+12154_231+12197del
NM_024577.3:c.*9984_*10027del , LRG_269t1:c.*9984_*10027del NP_078853.2:n.*9984_*10027del
NM_024577.4:c.*9984_*10027del MANE Select NP_078853.2:n.*9984_*10027del
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