Canonical Allele Identifier: CA1026676138

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50730932-CCCA-C
• gnomAD v4: 22-50730932-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730936_50730938del , CM000684.2:g.50730936_50730938del	GRCh38
NC_000022.10:g.51169364_51169366del , CM000684.1:g.51169364_51169366del	GRCh37
NC_000022.9:g.49516230_49516232del	NCBI36
NG_008607.2:g.61582_61584del
NG_070230.1:g.66720_66722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4448_4450del	ENSP00000489147.2:p.Thr1483del
ENST00000414786.7:n.5032_5034del
ENST00000445220.7:c.3500_3502del	ENSP00000489407.2:p.Thr1167del
ENST00000664402.2:c.2990_2992del	ENSP00000499475.1:p.Thr997del
ENST00000673971.2:c.*3446_*3448del	ENSP00000501192.1:n.*3446_*3448del
ENST00000445220.6:c.3500_3502del	ENSP00000489407.2:p.Thr1167del
ENST00000262795.6:c.4448_4450del	ENSP00000489147.2:p.Thr1483del
ENST00000659388.1:c.263_265del	ENSP00000499632.1:p.Thr88del
ENST00000664402.1:c.2990_2992del	ENSP00000499475.1:p.Thr997del
ENST00000673971.1:c.*3446_*3448del	ENSP00000501192.1:n.*3446_*3448del
ENST00000262795.5:c.4817_4819del	ENSP00000489147.1:p.Thr1606del
ENST00000414786.6:n.5032_5034del
ENST00000445220.5:c.4799_4801del	ENSP00000489407.1:p.Thr1600del