Canonical Allele Identifier: CA2657598540

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697572-C-CCGGCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697573_50697574insGGCCCCGGC , CM000684.2:g.50697573_50697574insGGCCCCGGC	GRCh38
NC_000022.10:g.51136001_51136002insGGCCCCGGC , CM000684.1:g.51136001_51136002insGGCCCCGGC	GRCh37
NC_000022.9:g.49482867_49482868insGGCCCCGGC	NCBI36
NG_008607.2:g.28219_28220insGGCCCCGGC
NG_070230.1:g.33438_33439insGGCCCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.957_958insGGCCCCGGC	ENSP00000489147.2:p.Pro319_Pro320insGlyProGly
ENST00000414786.7:n.1541_1542insGGCCCCGGC
ENST00000445220.7:c.9_10insGGCCCCGGC	ENSP00000489407.2:p.Pro3_Pro4insGlyProGly
ENST00000673971.2:c.1314_1315insGGCCCCGGC	ENSP00000501192.1:p.Pro438_Pro439insGlyProGly
ENST00000445220.6:c.9_10insGGCCCCGGC	ENSP00000489407.2:p.Pro3_Pro4insGlyProGly
ENST00000262795.6:c.957_958insGGCCCCGGC	ENSP00000489147.2:p.Pro319_Pro320insGlyProGly
ENST00000673971.1:c.1314_1315insGGCCCCGGC	ENSP00000501192.1:p.Pro438_Pro439insGlyProGly
ENST00000673995.1:c.10_11insGGCCCCGGC
ENST00000262795.5:c.1353_1354insGGCCCCGGC	ENSP00000489147.1:p.Pro451_Pro452insGlyProGly
ENST00000414786.6:n.1541_1542insGGCCCCGGC
ENST00000445220.5:c.1335_1336insGGCCCCGGC	ENSP00000489407.1:p.Pro445_Pro446insGlyProGly