Canonical Allele Identifier: CA1026686821

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146798556
• gnomAD v3: 22-50697511-G-GTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC
• gnomAD v4: 22-50697511-G-GTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697511_50697512insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC , CM000684.2:g.50697511_50697512insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	GRCh38
NC_000022.10:g.51135939_51135940insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC , CM000684.1:g.51135939_51135940insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	GRCh37
NC_000022.9:g.49482805_49482806insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	NCBI36
NG_008607.2:g.27870_27871insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC
NG_070230.1:g.33089_33090insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-53_948-52insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	ENSP00000489147.2:n.948-53_948-52insTGAGGCCGGCGGCGGGGCCGGGCCG...
ENST00000414786.7:n.1532-53_1532-52insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC
ENST00000673971.2:c.1305-53_1305-52insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	ENSP00000501192.1:n.1305-53_1305-52insTGAGGCCGGCGGCGGGGCCGGGC...
ENST00000262795.6:c.948-53_948-52insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	ENSP00000489147.2:n.948-53_948-52insTGAGGCCGGCGGCGGGGCCGGGCCG...
ENST00000673971.1:c.1305-53_1305-52insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	ENSP00000501192.1:n.1305-53_1305-52insTGAGGCCGGCGGCGGGGCCGGGC...
ENST00000262795.5:c.1345-54_1345-53insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	ENSP00000489147.1:n.1345-54_1345-53insTGAGGCCGGCGGCGGGGCCGGGC...
ENST00000414786.6:n.1532-53_1532-52insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC
ENST00000445220.5:c.1326-53_1326-52insTGAGGCCGGCGGCGGGGCCGGGCCGCGCGC	ENSP00000489407.1:n.1326-53_1326-52insTGAGGCCGGCGGCGGGGCCGGGC...