Canonical Allele Identifier: CA2675887494

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149008749-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008754_149008755del , CM000667.2:g.149008754_149008755del	GRCh38
NC_000005.9:g.148388317_148388318del , CM000667.1:g.148388317_148388318del	GRCh37
NC_000005.8:g.148368510_148368511del	NCBI36
NG_007947.2:g.59424_59425del , LRG_269:g.59424_59425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+100_3374+101del
ENST00000515425.6:c.3478+100_3478+101del MANE Select	ENSP00000423660.1:n.3478+100_3478+101del
ENST00000675793.1:c.*2862_*2863del	ENSP00000502039.1:n.*2862_*2863del
ENST00000323829.9:c.*2866+100_*2866+101del	ENSP00000313025.5:n.*2866+100_*2866+101del
ENST00000504517.5:c.3008+100_3008+101del	ENSP00000421779.1:n.3008+100_3008+101del
ENST00000504690.5:c.3478+100_3478+101del	ENSP00000425627.1:n.3478+100_3478+101del
ENST00000510779.1:c.2528+100_2528+101del
ENST00000512049.5:c.3457+100_3457+101del	ENSP00000421860.1:n.3457+100_3457+101del
ENST00000515229.5:n.140+100_140+101del
ENST00000515425.5:c.3478+100_3478+101del	ENSP00000423660.1:n.3478+100_3478+101del
NM_024577.3:c.3478+100_3478+101del , LRG_269t1:c.3478+100_3478+101del	NP_078853.2:n.3478+100_3478+101del
NM_024577.4:c.3478+100_3478+101del MANE Select	NP_078853.2:n.3478+100_3478+101del