Canonical Allele Identifier: CA1590304157

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753732580
• gnomAD v4: 5-149008717-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008723_149008724del , CM000667.2:g.149008723_149008724del	GRCh38
NC_000005.9:g.148388286_148388287del , CM000667.1:g.148388286_148388287del	GRCh37
NC_000005.8:g.148368479_148368480del	NCBI36
NG_007947.2:g.59456_59457del , LRG_269:g.59456_59457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+132_3374+133del
ENST00000515425.6:c.3478+132_3478+133del MANE Select	ENSP00000423660.1:n.3478+132_3478+133del
ENST00000675793.1:c.*2894_*2895del	ENSP00000502039.1:n.*2894_*2895del
ENST00000323829.9:c.*2866+132_*2866+133del	ENSP00000313025.5:n.*2866+132_*2866+133del
ENST00000504517.5:c.3008+132_3008+133del	ENSP00000421779.1:n.3008+132_3008+133del
ENST00000504690.5:c.3478+132_3478+133del	ENSP00000425627.1:n.3478+132_3478+133del
ENST00000510779.1:c.2528+132_2528+133del
ENST00000512049.5:c.3457+132_3457+133del	ENSP00000421860.1:n.3457+132_3457+133del
ENST00000515229.5:n.140+132_140+133del
ENST00000515425.5:c.3478+132_3478+133del	ENSP00000423660.1:n.3478+132_3478+133del
NM_024577.3:c.3478+132_3478+133del , LRG_269t1:c.3478+132_3478+133del	NP_078853.2:n.3478+132_3478+133del
NM_024577.4:c.3478+132_3478+133del MANE Select	NP_078853.2:n.3478+132_3478+133del