Canonical Allele Identifier: CA640359023

Gene: SHANK3

Linked Data

• dbSNP Id: rs1288065703
• gnomAD v2: 22-51136031-C-CAGG
• gnomAD v3: 22-50697603-C-CAGG
• gnomAD v4: 22-50697603-C-CAGG
• MyVariant Identifiers: chr22:g.51136031_51136032insAGG (hg19) ; chr22:g.50697603_50697604insAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697603_50697604insAGG , CM000684.2:g.50697603_50697604insAGG	GRCh38
NC_000022.10:g.51136031_51136032insAGG , CM000684.1:g.51136031_51136032insAGG	GRCh37
NC_000022.9:g.49482897_49482898insAGG	NCBI36
NG_008607.2:g.28249_28250insAGG
NG_070230.1:g.33468_33469insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.987_988insAGG	ENSP00000489147.2:p.Gly329_Pro330insArg
ENST00000414786.7:n.1571_1572insAGG
ENST00000445220.7:c.39_40insAGG	ENSP00000489407.2:p.Gly13_Pro14insArg
ENST00000673971.2:c.1344_1345insAGG	ENSP00000501192.1:p.Gly448_Pro449insArg
ENST00000445220.6:c.39_40insAGG	ENSP00000489407.2:p.Gly13_Pro14insArg
ENST00000262795.6:c.987_988insAGG	ENSP00000489147.2:p.Gly329_Pro330insArg
ENST00000673971.1:c.1344_1345insAGG	ENSP00000501192.1:p.Gly448_Pro449insArg
ENST00000673995.1:c.40_41insAGG
ENST00000262795.5:c.1383_1384insAGG	ENSP00000489147.1:p.Gly461_Pro462insArg
ENST00000414786.6:n.1571_1572insAGG
ENST00000445220.5:c.1365_1366insAGG	ENSP00000489407.1:p.Gly455_Pro456insArg