Canonical Allele Identifier: CA2657582994

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720342-GCCTTCTCGCCGCCGCCCCCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720344_50720364del , CM000684.2:g.50720344_50720364del	GRCh38
NC_000022.10:g.51158772_51158792del , CM000684.1:g.51158772_51158792del	GRCh37
NC_000022.9:g.49505638_49505658del	NCBI36
NG_008607.2:g.50990_51010del
NG_070230.1:g.56128_56148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2112_2132del	ENSP00000489147.2:p.Phe705_Pro711del
ENST00000414786.7:n.2696_2716del
ENST00000445220.7:c.1164_1184del	ENSP00000489407.2:p.Phe389_Pro395del
ENST00000664402.2:c.654_674del	ENSP00000499475.1:p.Phe219_Pro225del
ENST00000673971.2:c.*1110_*1130del	ENSP00000501192.1:n.*1110_*1130del
ENST00000445220.6:c.1164_1184del	ENSP00000489407.2:p.Phe389_Pro395del
ENST00000262795.6:c.2112_2132del	ENSP00000489147.2:p.Phe705_Pro711del
ENST00000664402.1:c.654_674del	ENSP00000499475.1:p.Phe219_Pro225del
ENST00000673971.1:c.*1110_*1130del	ENSP00000501192.1:n.*1110_*1130del
ENST00000262795.5:c.2508_2528del	ENSP00000489147.1:p.Phe837_Pro843del
ENST00000414786.6:n.2696_2716del
ENST00000445220.5:c.2490_2510del	ENSP00000489407.1:p.Phe831_Pro837del