Canonical Allele Identifier: CA1026687000

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697533-CCA-C
• gnomAD v4: 22-50697533-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697534_50697535del , CM000684.2:g.50697534_50697535del	GRCh38
NC_000022.10:g.51135962_51135963del , CM000684.1:g.51135962_51135963del	GRCh37
NC_000022.9:g.49482828_49482829del	NCBI36
NG_008607.2:g.27893_27894del
NG_070230.1:g.33112_33113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-30_948-29del	ENSP00000489147.2:n.948-30_948-29del
ENST00000414786.7:n.1532-30_1532-29del
ENST00000673971.2:c.1305-30_1305-29del	ENSP00000501192.1:n.1305-30_1305-29del
ENST00000262795.6:c.948-30_948-29del	ENSP00000489147.2:n.948-30_948-29del
ENST00000673971.1:c.1305-30_1305-29del	ENSP00000501192.1:n.1305-30_1305-29del
ENST00000262795.5:c.1345-31_1345-30del	ENSP00000489147.1:n.1345-31_1345-30del
ENST00000414786.6:n.1532-30_1532-29del
ENST00000445220.5:c.1326-30_1326-29del	ENSP00000489407.1:n.1326-30_1326-29del