Canonical Allele Identifier: CA2657597379

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697424-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697426_50697427dup , CM000684.2:g.50697426_50697427dup	GRCh38
NC_000022.10:g.51135854_51135855dup , CM000684.1:g.51135854_51135855dup	GRCh37
NC_000022.9:g.49482720_49482721dup	NCBI36
NG_008607.2:g.27785_27786dup
NG_070230.1:g.33004_33005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-138_948-137dup	ENSP00000489147.2:n.948-138_948-137dup
ENST00000414786.7:n.1532-138_1532-137dup
ENST00000673971.2:c.1305-138_1305-137dup	ENSP00000501192.1:n.1305-138_1305-137dup
ENST00000262795.6:c.948-138_948-137dup	ENSP00000489147.2:n.948-138_948-137dup
ENST00000673971.1:c.1305-138_1305-137dup	ENSP00000501192.1:n.1305-138_1305-137dup
ENST00000262795.5:c.1345-139_1345-138dup	ENSP00000489147.1:n.1345-139_1345-138dup
ENST00000414786.6:n.1532-138_1532-137dup
ENST00000445220.5:c.1326-138_1326-137dup	ENSP00000489407.1:n.1326-138_1326-137dup