Canonical Allele Identifier: CA1139667198

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 870760
• ClinVar RCV Id: RCV001090371
• dbSNP Id: rs2083275468
• gnomAD v4: 22-50720561-CCCGCGGCCACCCCGCCCGAGCGACCCAAGCGCCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720570_50720604del , CM000684.2:g.50720570_50720604del	GRCh38
NC_000022.10:g.51158998_51159032del , CM000684.1:g.51158998_51159032del	GRCh37
NC_000022.9:g.49505864_49505898del	NCBI36
NG_008607.2:g.51216_51250del
NG_070230.1:g.56354_56388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2338_2372del	ENSP00000489147.2:p.Thr780AlafsTer?
ENST00000414786.7:n.2922_2956del
ENST00000445220.7:c.1390_1424del	ENSP00000489407.2:p.Thr464AlafsTer?
ENST00000664402.2:c.880_914del	ENSP00000499475.1:p.Thr294AlafsTer?
ENST00000673971.2:c.*1336_*1370del	ENSP00000501192.1:n.*1336_*1370del
ENST00000445220.6:c.1390_1424del	ENSP00000489407.2:p.Thr464AlafsTer?
ENST00000262795.6:c.2338_2372del	ENSP00000489147.2:p.Thr780AlafsTer?
ENST00000664402.1:c.880_914del	ENSP00000499475.1:p.Thr294AlafsTer?
ENST00000673971.1:c.*1336_*1370del	ENSP00000501192.1:n.*1336_*1370del
ENST00000262795.5:c.2734_2768del	ENSP00000489147.1:p.Thr912AlafsTer?
ENST00000414786.6:n.2922_2956del
ENST00000445220.5:c.2716_2750del	ENSP00000489407.1:p.Thr906AlafsTer?