Canonical Allele Identifier: CA2657581331

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721784-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721788_50721790del , CM000684.2:g.50721788_50721790del	GRCh38
NC_000022.10:g.51160216_51160218del , CM000684.1:g.51160216_51160218del	GRCh37
NC_000022.9:g.49507082_49507084del	NCBI36
NG_008607.2:g.52434_52436del
NG_070230.1:g.57572_57574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3556_3558del	ENSP00000489147.2:p.Leu1186del
ENST00000414786.7:n.4140_4142del
ENST00000445220.7:c.2608_2610del	ENSP00000489407.2:p.Leu870del
ENST00000664402.2:c.2098_2100del	ENSP00000499475.1:p.Leu700del
ENST00000673971.2:c.*2554_*2556del	ENSP00000501192.1:n.*2554_*2556del
ENST00000445220.6:c.2608_2610del	ENSP00000489407.2:p.Leu870del
ENST00000262795.6:c.3556_3558del	ENSP00000489147.2:p.Leu1186del
ENST00000664402.1:c.2098_2100del	ENSP00000499475.1:p.Leu700del
ENST00000673971.1:c.*2554_*2556del	ENSP00000501192.1:n.*2554_*2556del
ENST00000262795.5:c.3952_3954del	ENSP00000489147.1:p.Leu1318del
ENST00000414786.6:n.4140_4142del
ENST00000445220.5:c.3934_3936del	ENSP00000489407.1:p.Leu1312del