Canonical Allele Identifier: CA2657598726

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697601-GGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697602_50697604del , CM000684.2:g.50697602_50697604del	GRCh38
NC_000022.10:g.51136030_51136032del , CM000684.1:g.51136030_51136032del	GRCh37
NC_000022.9:g.49482896_49482898del	NCBI36
NG_008607.2:g.28248_28250del
NG_070230.1:g.33467_33469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.986_988del	ENSP00000489147.2:p.Gly329_Pro330delinsAla
ENST00000414786.7:n.1570_1572del
ENST00000445220.7:c.38_40del	ENSP00000489407.2:p.Gly13_Pro14delinsAla
ENST00000673971.2:c.1343_1345del	ENSP00000501192.1:p.Gly448_Pro449delinsAla
ENST00000445220.6:c.38_40del	ENSP00000489407.2:p.Gly13_Pro14delinsAla
ENST00000262795.6:c.986_988del	ENSP00000489147.2:p.Gly329_Pro330delinsAla
ENST00000673971.1:c.1343_1345del	ENSP00000501192.1:p.Gly448_Pro449delinsAla
ENST00000673995.1:c.39_41del
ENST00000262795.5:c.1382_1384del	ENSP00000489147.1:p.Gly461_Pro462delinsAla
ENST00000414786.6:n.1570_1572del
ENST00000445220.5:c.1364_1366del	ENSP00000489407.1:p.Gly455_Pro456delinsAla