Canonical Allele Identifier: CA2657598643

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697588-ACCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697594_50697596del , CM000684.2:g.50697594_50697596del	GRCh38
NC_000022.10:g.51136022_51136024del , CM000684.1:g.51136022_51136024del	GRCh37
NC_000022.9:g.49482888_49482890del	NCBI36
NG_008607.2:g.28240_28242del
NG_070230.1:g.33459_33461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.978_980del	ENSP00000489147.2:p.Pro327del
ENST00000414786.7:n.1562_1564del
ENST00000445220.7:c.30_32del	ENSP00000489407.2:p.Pro11del
ENST00000673971.2:c.1335_1337del	ENSP00000501192.1:p.Pro446del
ENST00000445220.6:c.30_32del	ENSP00000489407.2:p.Pro11del
ENST00000262795.6:c.978_980del	ENSP00000489147.2:p.Pro327del
ENST00000673971.1:c.1335_1337del	ENSP00000501192.1:p.Pro446del
ENST00000673995.1:c.31_33del
ENST00000262795.5:c.1374_1376del	ENSP00000489147.1:p.Pro459del
ENST00000414786.6:n.1562_1564del
ENST00000445220.5:c.1356_1358del	ENSP00000489407.1:p.Pro453del