Canonical Allele Identifier: CA2657597371

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697421-GAGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697422_50697426del , CM000684.2:g.50697422_50697426del	GRCh38
NC_000022.10:g.51135850_51135854del , CM000684.1:g.51135850_51135854del	GRCh37
NC_000022.9:g.49482716_49482720del	NCBI36
NG_008607.2:g.27781_27785del
NG_070230.1:g.33000_33004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-142_948-138del	ENSP00000489147.2:n.948-142_948-138del
ENST00000414786.7:n.1532-142_1532-138del
ENST00000673971.2:c.1305-142_1305-138del	ENSP00000501192.1:n.1305-142_1305-138del
ENST00000262795.6:c.948-142_948-138del	ENSP00000489147.2:n.948-142_948-138del
ENST00000673971.1:c.1305-142_1305-138del	ENSP00000501192.1:n.1305-142_1305-138del
ENST00000262795.5:c.1345-143_1345-139del	ENSP00000489147.1:n.1345-143_1345-139del
ENST00000414786.6:n.1532-142_1532-138del
ENST00000445220.5:c.1326-142_1326-138del	ENSP00000489407.1:n.1326-142_1326-138del