Canonical Allele Identifier: CA2675887452

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008699-GCAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008700_149008703del , CM000667.2:g.149008700_149008703del	GRCh38
NC_000005.9:g.148388263_148388266del , CM000667.1:g.148388263_148388266del	GRCh37
NC_000005.8:g.148368456_148368459del	NCBI36
NG_007947.2:g.59472_59475del , LRG_269:g.59472_59475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+148_3374+151del
ENST00000515425.6:c.3478+148_3478+151del MANE Select	ENSP00000423660.1:n.3478+148_3478+151del
ENST00000675793.1:c.*2910_*2913del	ENSP00000502039.1:n.*2910_*2913del
ENST00000323829.9:c.*2866+148_*2866+151del	ENSP00000313025.5:n.*2866+148_*2866+151del
ENST00000504517.5:c.3008+148_3008+151del	ENSP00000421779.1:n.3008+148_3008+151del
ENST00000504690.5:c.3478+148_3478+151del	ENSP00000425627.1:n.3478+148_3478+151del
ENST00000510779.1:c.2528+148_2528+151del
ENST00000512049.5:c.3457+148_3457+151del	ENSP00000421860.1:n.3457+148_3457+151del
ENST00000515229.5:n.140+148_140+151del
ENST00000515425.5:c.3478+148_3478+151del	ENSP00000423660.1:n.3478+148_3478+151del
NM_024577.3:c.3478+148_3478+151del , LRG_269t1:c.3478+148_3478+151del	NP_078853.2:n.3478+148_3478+151del
NM_024577.4:c.3478+148_3478+151del MANE Select	NP_078853.2:n.3478+148_3478+151del