Canonical Allele Identifier: CA2657583403

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720768-G-GGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720771_50720773dup , CM000684.2:g.50720771_50720773dup	GRCh38
NC_000022.10:g.51159199_51159201dup , CM000684.1:g.51159199_51159201dup	GRCh37
NC_000022.9:g.49506065_49506067dup	NCBI36
NG_008607.2:g.51417_51419dup
NG_070230.1:g.56555_56557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2539_2541dup	ENSP00000489147.2:p.Ser847_Phe848insSer
ENST00000414786.7:n.3123_3125dup
ENST00000445220.7:c.1591_1593dup	ENSP00000489407.2:p.Ser531_Phe532insSer
ENST00000664402.2:c.1081_1083dup	ENSP00000499475.1:p.Ser361_Phe362insSer
ENST00000673971.2:c.*1537_*1539dup	ENSP00000501192.1:n.*1537_*1539dup
ENST00000445220.6:c.1591_1593dup	ENSP00000489407.2:p.Ser531_Phe532insSer
ENST00000262795.6:c.2539_2541dup	ENSP00000489147.2:p.Ser847_Phe848insSer
ENST00000664402.1:c.1081_1083dup	ENSP00000499475.1:p.Ser361_Phe362insSer
ENST00000673971.1:c.*1537_*1539dup	ENSP00000501192.1:n.*1537_*1539dup
ENST00000262795.5:c.2935_2937dup	ENSP00000489147.1:p.Ser979_Phe980insSer
ENST00000414786.6:n.3123_3125dup
ENST00000445220.5:c.2917_2919dup	ENSP00000489407.1:p.Ser973_Phe974insSer