Canonical Allele Identifier: CA2657583428

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721141-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721145del , CM000684.2:g.50721145del	GRCh38
NC_000022.10:g.51159573del , CM000684.1:g.51159573del	GRCh37
NC_000022.9:g.49506439del	NCBI36
NG_008607.2:g.51791del
NG_070230.1:g.56929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2913del	ENSP00000489147.2:p.Ser972AlafsTer?
ENST00000414786.7:n.3497del
ENST00000445220.7:c.1965del	ENSP00000489407.2:p.Ser656AlafsTer?
ENST00000664402.2:c.1455del	ENSP00000499475.1:p.Ser486AlafsTer?
ENST00000673971.2:c.*1911del	ENSP00000501192.1:n.*1911del
ENST00000445220.6:c.1965del	ENSP00000489407.2:p.Ser656AlafsTer?
ENST00000262795.6:c.2913del	ENSP00000489147.2:p.Ser972AlafsTer?
ENST00000664402.1:c.1455del	ENSP00000499475.1:p.Ser486AlafsTer?
ENST00000673971.1:c.*1911del	ENSP00000501192.1:n.*1911del
ENST00000262795.5:c.3309del	ENSP00000489147.1:p.Ser1104AlafsTer?
ENST00000414786.6:n.3497del
ENST00000445220.5:c.3291del	ENSP00000489407.1:p.Ser1098AlafsTer?