Canonical Allele Identifier: CA1026686891

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697515-G-GCGGT
• gnomAD v4: 22-50697515-G-GCGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697515_50697516insCGGT , CM000684.2:g.50697515_50697516insCGGT	GRCh38
NC_000022.10:g.51135943_51135944insCGGT , CM000684.1:g.51135943_51135944insCGGT	GRCh37
NC_000022.9:g.49482809_49482810insCGGT	NCBI36
NG_008607.2:g.27874_27875insCGGT
NG_070230.1:g.33093_33094insCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-49_948-48insCGGT	ENSP00000489147.2:n.948-49_948-48insCGGT
ENST00000414786.7:n.1532-49_1532-48insCGGT
ENST00000673971.2:c.1305-49_1305-48insCGGT	ENSP00000501192.1:n.1305-49_1305-48insCGGT
ENST00000262795.6:c.948-49_948-48insCGGT	ENSP00000489147.2:n.948-49_948-48insCGGT
ENST00000673971.1:c.1305-49_1305-48insCGGT	ENSP00000501192.1:n.1305-49_1305-48insCGGT
ENST00000262795.5:c.1345-50_1345-49insCGGT	ENSP00000489147.1:n.1345-50_1345-49insCGGT
ENST00000414786.6:n.1532-49_1532-48insCGGT
ENST00000445220.5:c.1326-49_1326-48insCGGT	ENSP00000489407.1:n.1326-49_1326-48insCGGT