Canonical Allele Identifier: CA2592022824

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697401-CCG-C
• gnomAD v4: 22-50697401-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697402_50697403del , CM000684.2:g.50697402_50697403del	GRCh38
NC_000022.10:g.51135830_51135831del , CM000684.1:g.51135830_51135831del	GRCh37
NC_000022.9:g.49482696_49482697del	NCBI36
NG_008607.2:g.27761_27762del
NG_070230.1:g.32980_32981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-162_948-161del	ENSP00000489147.2:n.948-162_948-161del
ENST00000414786.7:n.1532-162_1532-161del
ENST00000673971.2:c.1305-162_1305-161del	ENSP00000501192.1:n.1305-162_1305-161del
ENST00000262795.6:c.948-162_948-161del	ENSP00000489147.2:n.948-162_948-161del
ENST00000673971.1:c.1305-162_1305-161del	ENSP00000501192.1:n.1305-162_1305-161del
ENST00000262795.5:c.1344+135_1344+136del	ENSP00000489147.1:n.1344+135_1344+136del
ENST00000414786.6:n.1532-162_1532-161del
ENST00000445220.5:c.1326-162_1326-161del	ENSP00000489407.1:n.1326-162_1326-161del