Canonical Allele Identifier: CA1026687777

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697612-GAAACTTTACAGC-G
• gnomAD v4: 22-50697612-GAAACTTTACAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697613_50697624del , CM000684.2:g.50697613_50697624del	GRCh38
NC_000022.10:g.51136041_51136052del , CM000684.1:g.51136041_51136052del	GRCh37
NC_000022.9:g.49482907_49482918del	NCBI36
NG_008607.2:g.28259_28270del
NG_070230.1:g.33478_33489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.997_1008del	ENSP00000489147.2:p.Lys333_Ser336del
ENST00000414786.7:n.1581_1592del
ENST00000445220.7:c.49_60del	ENSP00000489407.2:p.Lys17_Ser20del
ENST00000673971.2:c.1354_1365del	ENSP00000501192.1:p.Lys452_Ser455del
ENST00000445220.6:c.49_60del	ENSP00000489407.2:p.Lys17_Ser20del
ENST00000262795.6:c.997_1008del	ENSP00000489147.2:p.Lys333_Ser336del
ENST00000673971.1:c.1354_1365del	ENSP00000501192.1:p.Lys452_Ser455del
ENST00000673995.1:c.50_61del
ENST00000262795.5:c.1393_1404del	ENSP00000489147.1:p.Lys465_Ser468del
ENST00000414786.6:n.1581_1592del
ENST00000445220.5:c.1375_1386del	ENSP00000489407.1:p.Lys459_Ser462del