Canonical Allele Identifier: CA1026686876

Gene: SHANK3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697517_50697518del , CM000684.2:g.50697517_50697518del	GRCh38
NC_000022.10:g.51135945_51135946del , CM000684.1:g.51135945_51135946del	GRCh37
NC_000022.9:g.49482811_49482812del	NCBI36
NG_008607.2:g.27876_27877del
NG_070230.1:g.33095_33096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-47_948-46del	ENSP00000489147.2:n.948-47_948-46del
ENST00000414786.7:n.1532-47_1532-46del
ENST00000673971.2:c.1305-47_1305-46del	ENSP00000501192.1:n.1305-47_1305-46del
ENST00000262795.6:c.948-47_948-46del	ENSP00000489147.2:n.948-47_948-46del
ENST00000673971.1:c.1305-47_1305-46del	ENSP00000501192.1:n.1305-47_1305-46del
ENST00000262795.5:c.1345-48_1345-47del	ENSP00000489147.1:n.1345-48_1345-47del
ENST00000414786.6:n.1532-47_1532-46del
ENST00000445220.5:c.1326-47_1326-46del	ENSP00000489407.1:n.1326-47_1326-46del