Canonical Allele Identifier: CA2657597218

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697375-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697378_50697379dup , CM000684.2:g.50697378_50697379dup	GRCh38
NC_000022.10:g.51135806_51135807dup , CM000684.1:g.51135806_51135807dup	GRCh37
NC_000022.9:g.49482672_49482673dup	NCBI36
NG_008607.2:g.27737_27738dup
NG_070230.1:g.32956_32957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-186_948-185dup	ENSP00000489147.2:n.948-186_948-185dup
ENST00000414786.7:n.1532-186_1532-185dup
ENST00000673971.2:c.1305-186_1305-185dup	ENSP00000501192.1:n.1305-186_1305-185dup
ENST00000262795.6:c.948-186_948-185dup	ENSP00000489147.2:n.948-186_948-185dup
ENST00000673971.1:c.1305-186_1305-185dup	ENSP00000501192.1:n.1305-186_1305-185dup
ENST00000262795.5:c.1344+111_1344+112dup	ENSP00000489147.1:n.1344+111_1344+112dup
ENST00000414786.6:n.1532-186_1532-185dup
ENST00000445220.5:c.1326-186_1326-185dup	ENSP00000489407.1:n.1326-186_1326-185dup