Canonical Allele Identifier: CA2657599466

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697752-GCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697753_50697755del , CM000684.2:g.50697753_50697755del	GRCh38
NC_000022.10:g.51136181_51136183del , CM000684.1:g.51136181_51136183del	GRCh37
NC_000022.9:g.49483047_49483049del	NCBI36
NG_008607.2:g.28399_28401del
NG_070230.1:g.33617_33619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+38_1099+40del	ENSP00000489147.2:n.1099+38_1099+40del
ENST00000414786.7:n.1683+38_1683+40del
ENST00000445220.7:c.151+38_151+40del	ENSP00000489407.2:n.151+38_151+40del
ENST00000673971.2:c.1456+38_1456+40del	ENSP00000501192.1:n.1456+38_1456+40del
ENST00000445220.6:c.151+38_151+40del	ENSP00000489407.2:n.151+38_151+40del
ENST00000262795.6:c.1099+38_1099+40del	ENSP00000489147.2:n.1099+38_1099+40del
ENST00000673971.1:c.1456+38_1456+40del	ENSP00000501192.1:n.1456+38_1456+40del
ENST00000673995.1:c.152+38_152+40del
ENST00000262795.5:c.1495+38_1495+40del	ENSP00000489147.1:n.1495+38_1495+40del
ENST00000414786.6:n.1683+38_1683+40del
ENST00000445220.5:c.1477+38_1477+40del	ENSP00000489407.1:n.1477+38_1477+40del