Canonical Allele Identifier: CA640358975

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083089061
• gnomAD v2: 22-51135962-CAGGA-C
• gnomAD v3: 22-50697534-CAGGA-C
• gnomAD v4: 22-50697534-CAGGA-C
• MyVariant Identifiers: chr22:g.51135963_51135986delinsGCTGTATTCGAATTCGAGCT (hg19) ; chr22:g.50697535_50697558delinsGCTGTATTCGAATTCGAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697535_50697538del , CM000684.2:g.50697535_50697538del	GRCh38
NC_000022.10:g.51135963_51135966del , CM000684.1:g.51135963_51135966del	GRCh37
NC_000022.9:g.49482829_49482832del	NCBI36
NG_008607.2:g.27894_27897del
NG_070230.1:g.33113_33116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-29_948-26del	ENSP00000489147.2:n.948-29_948-26del
ENST00000414786.7:n.1532-29_1532-26del
ENST00000673971.2:c.1305-29_1305-26del	ENSP00000501192.1:n.1305-29_1305-26del
ENST00000262795.6:c.948-29_948-26del	ENSP00000489147.2:n.948-29_948-26del
ENST00000673971.1:c.1305-29_1305-26del	ENSP00000501192.1:n.1305-29_1305-26del
ENST00000262795.5:c.1345-30_1345-27del	ENSP00000489147.1:n.1345-30_1345-27del
ENST00000414786.6:n.1532-29_1532-26del
ENST00000445220.5:c.1326-29_1326-26del	ENSP00000489407.1:n.1326-29_1326-26del