Canonical Allele Identifier: CA2411008075

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083283592
• gnomAD v4: 22-50721177-G-GAGAGCGAGCTCTGGCCTCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721178_50721198dup , CM000684.2:g.50721178_50721198dup	GRCh38
NC_000022.10:g.51159606_51159626dup , CM000684.1:g.51159606_51159626dup	GRCh37
NC_000022.9:g.49506472_49506492dup	NCBI36
NG_008607.2:g.51824_51844dup
NG_070230.1:g.56962_56982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2946_2966dup	ENSP00000489147.2:p.Gln989_Ala990insGluArgAlaLeuAlaSerGln
ENST00000414786.7:n.3530_3550dup
ENST00000445220.7:c.1998_2018dup	ENSP00000489407.2:p.Gln673_Ala674insGluArgAlaLeuAlaSerGln
ENST00000664402.2:c.1488_1508dup	ENSP00000499475.1:p.Gln503_Ala504insGluArgAlaLeuAlaSerGln
ENST00000673971.2:c.*1944_*1964dup	ENSP00000501192.1:n.*1944_*1964dup
ENST00000445220.6:c.1998_2018dup	ENSP00000489407.2:p.Gln673_Ala674insGluArgAlaLeuAlaSerGln
ENST00000262795.6:c.2946_2966dup	ENSP00000489147.2:p.Gln989_Ala990insGluArgAlaLeuAlaSerGln
ENST00000664402.1:c.1488_1508dup	ENSP00000499475.1:p.Gln503_Ala504insGluArgAlaLeuAlaSerGln
ENST00000673971.1:c.*1944_*1964dup	ENSP00000501192.1:n.*1944_*1964dup
ENST00000262795.5:c.3342_3362dup	ENSP00000489147.1:p.Gln1121_Ala1122insGluArgAlaLeuAlaSerGln
ENST00000414786.6:n.3530_3550dup
ENST00000445220.5:c.3324_3344dup	ENSP00000489407.1:p.Gln1115_Ala1116insGluArgAlaLeuAlaSerGln