Canonical Allele Identifier: CA2657581378

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721890-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721891_50721892del , CM000684.2:g.50721891_50721892del	GRCh38
NC_000022.10:g.51160319_51160320del , CM000684.1:g.51160319_51160320del	GRCh37
NC_000022.9:g.49507185_49507186del	NCBI36
NG_008607.2:g.52537_52538del
NG_070230.1:g.57675_57676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3659_3660del	ENSP00000489147.2:p.Ala1220GlyfsTer8
ENST00000414786.7:n.4243_4244del
ENST00000445220.7:c.2711_2712del	ENSP00000489407.2:p.Ala904GlyfsTer8
ENST00000664402.2:c.2201_2202del	ENSP00000499475.1:p.Ala734GlyfsTer8
ENST00000673971.2:c.*2657_*2658del	ENSP00000501192.1:n.*2657_*2658del
ENST00000445220.6:c.2711_2712del	ENSP00000489407.2:p.Ala904GlyfsTer8
ENST00000262795.6:c.3659_3660del	ENSP00000489147.2:p.Ala1220GlyfsTer8
ENST00000664402.1:c.2201_2202del	ENSP00000499475.1:p.Ala734GlyfsTer8
ENST00000673971.1:c.*2657_*2658del	ENSP00000501192.1:n.*2657_*2658del
ENST00000262795.5:c.4055_4056del	ENSP00000489147.1:p.Ala1352GlyfsTer8
ENST00000414786.6:n.4243_4244del
ENST00000445220.5:c.4037_4038del	ENSP00000489407.1:p.Ala1346GlyfsTer8