Canonical Allele Identifier: CA2819325448

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697613_50697622del , CM000684.2:g.50697613_50697622del	GRCh38
NC_000022.10:g.51136041_51136050del , CM000684.1:g.51136041_51136050del	GRCh37
NC_000022.9:g.49482907_49482916del	NCBI36
NG_008607.2:g.28259_28268del
NG_070230.1:g.33478_33487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.997_1006del	ENSP00000489147.2:p.Lys333AlafsTer11
ENST00000414786.7:n.1581_1590del
ENST00000445220.7:c.49_58del	ENSP00000489407.2:p.Lys17AlafsTer11
ENST00000673971.2:c.1354_1363del	ENSP00000501192.1:p.Lys452AlafsTer11
ENST00000445220.6:c.49_58del	ENSP00000489407.2:p.Lys17AlafsTer11
ENST00000262795.6:c.997_1006del	ENSP00000489147.2:p.Lys333AlafsTer11
ENST00000673971.1:c.1354_1363del	ENSP00000501192.1:p.Lys452AlafsTer11
ENST00000673995.1:c.50_59del
ENST00000262795.5:c.1393_1402del	ENSP00000489147.1:p.Lys465AlafsTer11
ENST00000414786.6:n.1581_1590del
ENST00000445220.5:c.1375_1384del	ENSP00000489407.1:p.Lys459AlafsTer11