Canonical Allele Identifier: CA2657597652

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697500-G-GGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697501_50697502insCCCG , CM000684.2:g.50697501_50697502insCCCG	GRCh38
NC_000022.10:g.51135929_51135930insCCCG , CM000684.1:g.51135929_51135930insCCCG	GRCh37
NC_000022.9:g.49482795_49482796insCCCG	NCBI36
NG_008607.2:g.27860_27861insCCCG
NG_070230.1:g.33079_33080insCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-63_948-62insCCCG	ENSP00000489147.2:n.948-63_948-62insCCCG
ENST00000414786.7:n.1532-63_1532-62insCCCG
ENST00000673971.2:c.1305-63_1305-62insCCCG	ENSP00000501192.1:n.1305-63_1305-62insCCCG
ENST00000262795.6:c.948-63_948-62insCCCG	ENSP00000489147.2:n.948-63_948-62insCCCG
ENST00000673971.1:c.1305-63_1305-62insCCCG	ENSP00000501192.1:n.1305-63_1305-62insCCCG
ENST00000262795.5:c.1345-64_1345-63insCCCG	ENSP00000489147.1:n.1345-64_1345-63insCCCG
ENST00000414786.6:n.1532-63_1532-62insCCCG
ENST00000445220.5:c.1326-63_1326-62insCCCG	ENSP00000489407.1:n.1326-63_1326-62insCCCG