Canonical Allele Identifier: CA2657598375

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697560-G-GTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697560_50697561insTGC , CM000684.2:g.50697560_50697561insTGC	GRCh38
NC_000022.10:g.51135988_51135989insTGC , CM000684.1:g.51135988_51135989insTGC	GRCh37
NC_000022.9:g.49482854_49482855insTGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-4_948-3insTGC	ENSP00000489147.2:n.948-4_948-3insTGC
ENST00000414786.7:n.1532-4_1532-3insTGC
ENST00000673971.2:c.1305-4_1305-3insTGC	ENSP00000501192.1:n.1305-4_1305-3insTGC
ENST00000262795.6:c.948-4_948-3insTGC	ENSP00000489147.2:n.948-4_948-3insTGC
ENST00000673971.1:c.1305-4_1305-3insTGC	ENSP00000501192.1:n.1305-4_1305-3insTGC
ENST00000262795.5:c.1345-5_1345-4insTGC	ENSP00000489147.1:n.1345-5_1345-4insTGC
ENST00000414786.6:n.1532-4_1532-3insTGC
ENST00000445220.5:c.1326-4_1326-3insTGC	ENSP00000489407.1:n.1326-4_1326-3insTGC