Canonical Allele Identifier: CA1026672769

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083297364
• gnomAD v3: 22-50722186-T-TGCCGGGCTGGCCTCTGCC
• gnomAD v4: 22-50722186-T-TGCCGGGCTGGCCTCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722194_50722211dup , CM000684.2:g.50722194_50722211dup	GRCh38
NC_000022.10:g.51160622_51160639dup , CM000684.1:g.51160622_51160639dup	GRCh37
NC_000022.9:g.49507488_49507505dup	NCBI36
NG_008607.2:g.52840_52857dup
NG_070230.1:g.57978_57995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3962_3979dup	ENSP00000489147.2:p.Gly1326_Pro1327insLeuAlaSerAlaAlaGly
ENST00000414786.7:n.4546_4563dup
ENST00000445220.7:c.3014_3031dup	ENSP00000489407.2:p.Gly1010_Pro1011insLeuAlaSerAlaAlaGly
ENST00000664402.2:c.2504_2521dup	ENSP00000499475.1:p.Gly840_Pro841insLeuAlaSerAlaAlaGly
ENST00000673971.2:c.*2960_*2977dup	ENSP00000501192.1:n.*2960_*2977dup
ENST00000445220.6:c.3014_3031dup	ENSP00000489407.2:p.Gly1010_Pro1011insLeuAlaSerAlaAlaGly
ENST00000262795.6:c.3962_3979dup	ENSP00000489147.2:p.Gly1326_Pro1327insLeuAlaSerAlaAlaGly
ENST00000664402.1:c.2504_2521dup	ENSP00000499475.1:p.Gly840_Pro841insLeuAlaSerAlaAlaGly
ENST00000673971.1:c.*2960_*2977dup	ENSP00000501192.1:n.*2960_*2977dup
ENST00000262795.5:c.4358_4375dup	ENSP00000489147.1:p.Gly1458_Pro1459insLeuAlaSerAlaAlaGly
ENST00000414786.6:n.4546_4563dup
ENST00000445220.5:c.4340_4357dup	ENSP00000489407.1:p.Gly1452_Pro1453insLeuAlaSerAlaAlaGly