Canonical Allele Identifier: CA2657598690

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697597-C-CCGGGGCGGCGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697603_50697604insGGCGGTGCGGGGC , CM000684.2:g.50697603_50697604insGGCGGTGCGGGGC	GRCh38
NC_000022.10:g.51136031_51136032insGGCGGTGCGGGGC , CM000684.1:g.51136031_51136032insGGCGGTGCGGGGC	GRCh37
NC_000022.9:g.49482897_49482898insGGCGGTGCGGGGC	NCBI36
NG_008607.2:g.28249_28250insGGCGGTGCGGGGC
NG_070230.1:g.33468_33469insGGCGGTGCGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.987_988insGGCGGTGCGGGGC	ENSP00000489147.2:p.Pro330GlyfsTer29
ENST00000414786.7:n.1571_1572insGGCGGTGCGGGGC
ENST00000445220.7:c.39_40insGGCGGTGCGGGGC	ENSP00000489407.2:p.Pro14GlyfsTer29
ENST00000673971.2:c.1344_1345insGGCGGTGCGGGGC	ENSP00000501192.1:p.Pro449GlyfsTer29
ENST00000445220.6:c.39_40insGGCGGTGCGGGGC	ENSP00000489407.2:p.Pro14GlyfsTer29
ENST00000262795.6:c.987_988insGGCGGTGCGGGGC	ENSP00000489147.2:p.Pro330GlyfsTer29
ENST00000673971.1:c.1344_1345insGGCGGTGCGGGGC	ENSP00000501192.1:p.Pro449GlyfsTer29
ENST00000673995.1:c.40_41insGGCGGTGCGGGGC
ENST00000262795.5:c.1383_1384insGGCGGTGCGGGGC	ENSP00000489147.1:p.Pro462GlyfsTer29
ENST00000414786.6:n.1571_1572insGGCGGTGCGGGGC
ENST00000445220.5:c.1365_1366insGGCGGTGCGGGGC	ENSP00000489407.1:p.Pro456GlyfsTer29