Canonical Allele Identifier: CA515254832

Gene: SHANK3

Linked Data

• dbSNP Id: rs1169457560
• gnomAD v2: 22-51135989-GTT-G
• gnomAD v3: 22-50697561-GTT-G
• gnomAD v4: 22-50697561-GTT-G
• MyVariant Identifiers: chr22:g.51135990_51135991del (hg19) ; chr22:g.50697562_50697563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697562_50697563del , CM000684.2:g.50697562_50697563del	GRCh38
NC_000022.10:g.51135990_51135991del , CM000684.1:g.51135990_51135991del	GRCh37
NC_000022.9:g.49482856_49482857del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-2_948-1del	ENSP00000489147.2:n.948-2_948-1del
ENST00000414786.7:n.1532-2_1532-1del
ENST00000673971.2:c.1305-2_1305-1del	ENSP00000501192.1:n.1305-2_1305-1del
ENST00000262795.6:c.948-2_948-1del	ENSP00000489147.2:n.948-2_948-1del
ENST00000673971.1:c.1305-2_1305-1del	ENSP00000501192.1:n.1305-2_1305-1del
ENST00000262795.5:c.1345-3_1345-2del	ENSP00000489147.1:n.1345-3_1345-2del
ENST00000414786.6:n.1532-2_1532-1del
ENST00000445220.5:c.1326-2_1326-1del	ENSP00000489407.1:n.1326-2_1326-1del