Canonical Allele Identifier: CA2657599377

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697739-GGGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697743_50697747del , CM000684.2:g.50697743_50697747del	GRCh38
NC_000022.10:g.51136171_51136175del , CM000684.1:g.51136171_51136175del	GRCh37
NC_000022.9:g.49483037_49483041del	NCBI36
NG_008607.2:g.28389_28393del
NG_070230.1:g.33607_33611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+28_1099+32del	ENSP00000489147.2:n.1099+28_1099+32del
ENST00000414786.7:n.1683+28_1683+32del
ENST00000445220.7:c.151+28_151+32del	ENSP00000489407.2:n.151+28_151+32del
ENST00000673971.2:c.1456+28_1456+32del	ENSP00000501192.1:n.1456+28_1456+32del
ENST00000445220.6:c.151+28_151+32del	ENSP00000489407.2:n.151+28_151+32del
ENST00000262795.6:c.1099+28_1099+32del	ENSP00000489147.2:n.1099+28_1099+32del
ENST00000673971.1:c.1456+28_1456+32del	ENSP00000501192.1:n.1456+28_1456+32del
ENST00000673995.1:c.152+28_152+32del
ENST00000262795.5:c.1495+28_1495+32del	ENSP00000489147.1:n.1495+28_1495+32del
ENST00000414786.6:n.1683+28_1683+32del
ENST00000445220.5:c.1477+28_1477+32del	ENSP00000489407.1:n.1477+28_1477+32del