Canonical Allele Identifier: CA805451566

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1184279626
• gnomAD v4: 5-149008627-CAA-C
• MyVariant Identifiers: chr5:g.148388191_148388192del (hg19) ; chr5:g.149008628_149008629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008628_149008629del , CM000667.2:g.149008628_149008629del	GRCh38
NC_000005.9:g.148388191_148388192del , CM000667.1:g.148388191_148388192del	GRCh37
NC_000005.8:g.148368384_148368385del	NCBI36
NG_007947.2:g.59546_59547del , LRG_269:g.59546_59547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+222_3374+223del
ENST00000515425.6:c.3478+222_3478+223del MANE Select	ENSP00000423660.1:n.3478+222_3478+223del
ENST00000675793.1:c.*2984_*2985del	ENSP00000502039.1:n.*2984_*2985del
ENST00000323829.9:c.*2866+222_*2866+223del	ENSP00000313025.5:n.*2866+222_*2866+223del
ENST00000504517.5:c.3008+222_3008+223del	ENSP00000421779.1:n.3008+222_3008+223del
ENST00000504690.5:c.3478+222_3478+223del	ENSP00000425627.1:n.3478+222_3478+223del
ENST00000510779.1:c.2528+222_2528+223del
ENST00000512049.5:c.3457+222_3457+223del	ENSP00000421860.1:n.3457+222_3457+223del
ENST00000515229.5:n.140+222_140+223del
ENST00000515425.5:c.3478+222_3478+223del	ENSP00000423660.1:n.3478+222_3478+223del
NM_024577.3:c.3478+222_3478+223del , LRG_269t1:c.3478+222_3478+223del	NP_078853.2:n.3478+222_3478+223del
NM_024577.4:c.3478+222_3478+223del MANE Select	NP_078853.2:n.3478+222_3478+223del