Canonical Allele Identifier: CA1026686909

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697519-C-CCCCGG
• gnomAD v4: 22-50697519-C-CCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697519_50697520insCCCGG , CM000684.2:g.50697519_50697520insCCCGG	GRCh38
NC_000022.10:g.51135947_51135948insCCCGG , CM000684.1:g.51135947_51135948insCCCGG	GRCh37
NC_000022.9:g.49482813_49482814insCCCGG	NCBI36
NG_008607.2:g.27878_27879insCCCGG
NG_070230.1:g.33097_33098insCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-45_948-44insCCCGG	ENSP00000489147.2:n.948-45_948-44insCCCGG
ENST00000414786.7:n.1532-45_1532-44insCCCGG
ENST00000673971.2:c.1305-45_1305-44insCCCGG	ENSP00000501192.1:n.1305-45_1305-44insCCCGG
ENST00000262795.6:c.948-45_948-44insCCCGG	ENSP00000489147.2:n.948-45_948-44insCCCGG
ENST00000673971.1:c.1305-45_1305-44insCCCGG	ENSP00000501192.1:n.1305-45_1305-44insCCCGG
ENST00000262795.5:c.1345-46_1345-45insCCCGG	ENSP00000489147.1:n.1345-46_1345-45insCCCGG
ENST00000414786.6:n.1532-45_1532-44insCCCGG
ENST00000445220.5:c.1326-45_1326-44insCCCGG	ENSP00000489407.1:n.1326-45_1326-44insCCCGG