Canonical Allele Identifier: CA1026687714

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697592-C-CT
• gnomAD v4: 22-50697592-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697592_50697593insT , CM000684.2:g.50697592_50697593insT	GRCh38
NC_000022.10:g.51136020_51136021insT , CM000684.1:g.51136020_51136021insT	GRCh37
NC_000022.9:g.49482886_49482887insT	NCBI36
NG_008607.2:g.28238_28239insT
NG_070230.1:g.33457_33458insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.976_977insT	ENSP00000489147.2:p.Pro326LeufsTer29
ENST00000414786.7:n.1560_1561insT
ENST00000445220.7:c.28_29insT	ENSP00000489407.2:p.Pro10LeufsTer29
ENST00000673971.2:c.1333_1334insT	ENSP00000501192.1:p.Pro445LeufsTer29
ENST00000445220.6:c.28_29insT	ENSP00000489407.2:p.Pro10LeufsTer29
ENST00000262795.6:c.976_977insT	ENSP00000489147.2:p.Pro326LeufsTer29
ENST00000673971.1:c.1333_1334insT	ENSP00000501192.1:p.Pro445LeufsTer29
ENST00000673995.1:c.29_30insT
ENST00000262795.5:c.1372_1373insT	ENSP00000489147.1:p.Pro458LeufsTer29
ENST00000414786.6:n.1560_1561insT
ENST00000445220.5:c.1354_1355insT	ENSP00000489407.1:p.Pro452LeufsTer29