Canonical Allele Identifier: CA2657598747

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697606-GAAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697607_50697610del , CM000684.2:g.50697607_50697610del	GRCh38
NC_000022.10:g.51136035_51136038del , CM000684.1:g.51136035_51136038del	GRCh37
NC_000022.9:g.49482901_49482904del	NCBI36
NG_008607.2:g.28253_28256del
NG_070230.1:g.33472_33475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.991_994del	ENSP00000489147.2:p.Lys331GlyfsTer15
ENST00000414786.7:n.1575_1578del
ENST00000445220.7:c.43_46del	ENSP00000489407.2:p.Lys15GlyfsTer15
ENST00000673971.2:c.1348_1351del	ENSP00000501192.1:p.Lys450GlyfsTer15
ENST00000445220.6:c.43_46del	ENSP00000489407.2:p.Lys15GlyfsTer15
ENST00000262795.6:c.991_994del	ENSP00000489147.2:p.Lys331GlyfsTer15
ENST00000673971.1:c.1348_1351del	ENSP00000501192.1:p.Lys450GlyfsTer15
ENST00000673995.1:c.44_47del
ENST00000262795.5:c.1387_1390del	ENSP00000489147.1:p.Lys463GlyfsTer15
ENST00000414786.6:n.1575_1578del
ENST00000445220.5:c.1369_1372del	ENSP00000489407.1:p.Lys457GlyfsTer15