Canonical Allele Identifier: CA1026687619

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083090152
• gnomAD v3: 22-50697569-C-CA
• gnomAD v4: 22-50697569-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697569_50697570insA , CM000684.2:g.50697569_50697570insA	GRCh38
NC_000022.10:g.51135997_51135998insA , CM000684.1:g.51135997_51135998insA	GRCh37
NC_000022.9:g.49482863_49482864insA	NCBI36
NG_008607.2:g.28215_28216insA
NG_070230.1:g.33434_33435insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.953_954insA	ENSP00000489147.2:p.Pro319AlafsTer?
ENST00000414786.7:n.1537_1538insA
ENST00000445220.7:c.5_6insA	ENSP00000489407.2:p.Pro3AlafsTer?
ENST00000673971.2:c.1310_1311insA	ENSP00000501192.1:p.Pro438AlafsTer?
ENST00000445220.6:c.5_6insA	ENSP00000489407.2:p.Pro3AlafsTer?
ENST00000262795.6:c.953_954insA	ENSP00000489147.2:p.Pro319AlafsTer?
ENST00000673971.1:c.1310_1311insA	ENSP00000501192.1:p.Pro438AlafsTer?
ENST00000673995.1:c.6_7insA
ENST00000262795.5:c.1349_1350insA	ENSP00000489147.1:p.Pro451AlafsTer?
ENST00000414786.6:n.1537_1538insA
ENST00000445220.5:c.1331_1332insA	ENSP00000489407.1:p.Pro445AlafsTer?