Canonical Allele Identifier: CA640359039

Gene: SHANK3

Linked Data

• dbSNP Id: rs1202172841
• gnomAD v2: 22-51159831-CAAG-C
• MyVariant Identifiers: chr22:g.51159832_51159834del (hg19) ; chr22:g.50721404_50721406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721407_50721409del , CM000684.2:g.50721407_50721409del	GRCh38
NC_000022.10:g.51159835_51159837del , CM000684.1:g.51159835_51159837del	GRCh37
NC_000022.9:g.49506701_49506703del	NCBI36
NG_008607.2:g.52053_52055del
NG_070230.1:g.57191_57193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3175_3177del	ENSP00000489147.2:p.Lys1059del
ENST00000414786.7:n.3759_3761del
ENST00000445220.7:c.2227_2229del	ENSP00000489407.2:p.Lys743del
ENST00000664402.2:c.1717_1719del	ENSP00000499475.1:p.Lys573del
ENST00000673971.2:c.*2173_*2175del	ENSP00000501192.1:n.*2173_*2175del
ENST00000445220.6:c.2227_2229del	ENSP00000489407.2:p.Lys743del
ENST00000262795.6:c.3175_3177del	ENSP00000489147.2:p.Lys1059del
ENST00000664402.1:c.1717_1719del	ENSP00000499475.1:p.Lys573del
ENST00000673971.1:c.*2173_*2175del	ENSP00000501192.1:n.*2173_*2175del
ENST00000262795.5:c.3571_3573del	ENSP00000489147.1:p.Lys1191del
ENST00000414786.6:n.3759_3761del
ENST00000445220.5:c.3553_3555del	ENSP00000489407.1:p.Lys1185del