Canonical Allele Identifier: CA1026687697

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083090729
• gnomAD v3: 22-50697588-ACCGCC-A
• gnomAD v4: 22-50697588-ACCGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697589_50697593del , CM000684.2:g.50697589_50697593del	GRCh38
NC_000022.10:g.51136017_51136021del , CM000684.1:g.51136017_51136021del	GRCh37
NC_000022.9:g.49482883_49482887del	NCBI36
NG_008607.2:g.28235_28239del
NG_070230.1:g.33454_33458del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.973_977del	ENSP00000489147.2:p.Pro325AlafsTer28
ENST00000414786.7:n.1557_1561del
ENST00000445220.7:c.25_29del	ENSP00000489407.2:p.Pro9AlafsTer28
ENST00000673971.2:c.1330_1334del	ENSP00000501192.1:p.Pro444AlafsTer28
ENST00000445220.6:c.25_29del	ENSP00000489407.2:p.Pro9AlafsTer28
ENST00000262795.6:c.973_977del	ENSP00000489147.2:p.Pro325AlafsTer28
ENST00000673971.1:c.1330_1334del	ENSP00000501192.1:p.Pro444AlafsTer28
ENST00000673995.1:c.26_30del
ENST00000262795.5:c.1369_1373del	ENSP00000489147.1:p.Pro457AlafsTer28
ENST00000414786.6:n.1557_1561del
ENST00000445220.5:c.1351_1355del	ENSP00000489407.1:p.Pro451AlafsTer28