Canonical Allele Identifier: CA2819325444

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697589_50697590del , CM000684.2:g.50697589_50697590del	GRCh38
NC_000022.10:g.51136017_51136018del , CM000684.1:g.51136017_51136018del	GRCh37
NC_000022.9:g.49482883_49482884del	NCBI36
NG_008607.2:g.28235_28236del
NG_070230.1:g.33454_33455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.973_974del	ENSP00000489147.2:p.Pro325AlafsTer29
ENST00000414786.7:n.1557_1558del
ENST00000445220.7:c.25_26del	ENSP00000489407.2:p.Pro9AlafsTer29
ENST00000673971.2:c.1330_1331del	ENSP00000501192.1:p.Pro444AlafsTer29
ENST00000445220.6:c.25_26del	ENSP00000489407.2:p.Pro9AlafsTer29
ENST00000262795.6:c.973_974del	ENSP00000489147.2:p.Pro325AlafsTer29
ENST00000673971.1:c.1330_1331del	ENSP00000501192.1:p.Pro444AlafsTer29
ENST00000673995.1:c.26_27del
ENST00000262795.5:c.1369_1370del	ENSP00000489147.1:p.Pro457AlafsTer29
ENST00000414786.6:n.1557_1558del
ENST00000445220.5:c.1351_1352del	ENSP00000489407.1:p.Pro451AlafsTer29