Canonical Allele Identifier: CA1026686824

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697511-GCATGGAGCGAGCCT-G
• gnomAD v4: 22-50697511-GCATGGAGCGAGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697512_50697525del , CM000684.2:g.50697512_50697525del	GRCh38
NC_000022.10:g.51135940_51135953del , CM000684.1:g.51135940_51135953del	GRCh37
NC_000022.9:g.49482806_49482819del	NCBI36
NG_008607.2:g.27871_27884del
NG_070230.1:g.33090_33103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-52_948-39del	ENSP00000489147.2:n.948-52_948-39del
ENST00000414786.7:n.1532-52_1532-39del
ENST00000673971.2:c.1305-52_1305-39del	ENSP00000501192.1:n.1305-52_1305-39del
ENST00000262795.6:c.948-52_948-39del	ENSP00000489147.2:n.948-52_948-39del
ENST00000673971.1:c.1305-52_1305-39del	ENSP00000501192.1:n.1305-52_1305-39del
ENST00000262795.5:c.1345-53_1345-40del	ENSP00000489147.1:n.1345-53_1345-40del
ENST00000414786.6:n.1532-52_1532-39del
ENST00000445220.5:c.1326-52_1326-39del	ENSP00000489407.1:n.1326-52_1326-39del