Canonical Allele Identifier: CA2675888053

Gene: SH3TC2

Linked Data

• gnomAD v4: 5-149027918-CGGTCAGGCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027920_149027929del , CM000667.2:g.149027920_149027929del	GRCh38
NC_000005.9:g.148407483_148407492del , CM000667.1:g.148407483_148407492del	GRCh37
NC_000005.8:g.148387676_148387685del	NCBI36
NG_007947.2:g.40247_40256del , LRG_269:g.40247_40256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1700_1709del
ENST00000515425.6:c.1804_1813del MANE Select	ENSP00000423660.1:p.Leu602ValfsTer?
ENST00000675793.1:c.*1088_*1097del	ENSP00000502039.1:n.*1088_*1097del
ENST00000676056.1:c.*1314_*1323del	ENSP00000501827.1:n.*1314_*1323del
ENST00000323829.9:c.*1192_*1201del	ENSP00000313025.5:n.*1192_*1201del
ENST00000504517.5:c.1334_1343del	ENSP00000421779.1:n.1334_1343del
ENST00000504690.5:c.1804_1813del	ENSP00000425627.1:p.Leu602ValfsTer?
ENST00000510779.1:c.854_863del
ENST00000511307.5:c.*1584_*1593del	ENSP00000421420.1:n.*1584_*1593del
ENST00000512049.5:c.1783_1792del	ENSP00000421860.1:p.Leu595ValfsTer?
ENST00000513604.5:c.*1192_*1201del	ENSP00000423111.1:n.*1192_*1201del
ENST00000515425.5:c.1804_1813del	ENSP00000423660.1:p.Leu602ValfsTer?
NM_024577.3:c.1804_1813del , LRG_269t1:c.1804_1813del	NP_078853.2:p.Leu602ValfsTer?
NM_024577.4:c.1804_1813del MANE Select	NP_078853.2:p.Leu602ValfsTer?