Canonical Allele Identifier: CA1026687753

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697601-GGCCCGA-G
• gnomAD v4: 22-50697601-GGCCCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697602_50697607del , CM000684.2:g.50697602_50697607del	GRCh38
NC_000022.10:g.51136030_51136035del , CM000684.1:g.51136030_51136035del	GRCh37
NC_000022.9:g.49482896_49482901del	NCBI36
NG_008607.2:g.28248_28253del
NG_070230.1:g.33467_33472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.986_991del	ENSP00000489147.2:p.Gly329_Lys331delinsGlu
ENST00000414786.7:n.1570_1575del
ENST00000445220.7:c.38_43del	ENSP00000489407.2:p.Gly13_Lys15delinsGlu
ENST00000673971.2:c.1343_1348del	ENSP00000501192.1:p.Gly448_Lys450delinsGlu
ENST00000445220.6:c.38_43del	ENSP00000489407.2:p.Gly13_Lys15delinsGlu
ENST00000262795.6:c.986_991del	ENSP00000489147.2:p.Gly329_Lys331delinsGlu
ENST00000673971.1:c.1343_1348del	ENSP00000501192.1:p.Gly448_Lys450delinsGlu
ENST00000673995.1:c.39_44del
ENST00000262795.5:c.1382_1387del	ENSP00000489147.1:p.Gly461_Lys463delinsGlu
ENST00000414786.6:n.1570_1575del
ENST00000445220.5:c.1364_1369del	ENSP00000489407.1:p.Gly455_Lys457delinsGlu