Canonical Allele Identifier: CA325553810

Gene: SHANK3

Linked Data

• dbSNP Id: rs914809991
• gnomAD v4: 22-50697397-CCTCCCGGGGGT-C
• MyVariant Identifiers: chr22:g.51135826_51135836del (hg19) ; chr22:g.50697398_50697408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697399_50697409del , CM000684.2:g.50697399_50697409del	GRCh38
NC_000022.10:g.51135827_51135837del , CM000684.1:g.51135827_51135837del	GRCh37
NC_000022.9:g.49482693_49482703del	NCBI36
NG_008607.2:g.27758_27768del
NG_070230.1:g.32977_32987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-165_948-155del	ENSP00000489147.2:n.948-165_948-155del
ENST00000414786.7:n.1532-165_1532-155del
ENST00000673971.2:c.1305-165_1305-155del	ENSP00000501192.1:n.1305-165_1305-155del
ENST00000262795.6:c.948-165_948-155del	ENSP00000489147.2:n.948-165_948-155del
ENST00000673971.1:c.1305-165_1305-155del	ENSP00000501192.1:n.1305-165_1305-155del
ENST00000262795.5:c.1344+132_1344+142del	ENSP00000489147.1:n.1344+132_1344+142del
ENST00000414786.6:n.1532-165_1532-155del
ENST00000445220.5:c.1326-165_1326-155del	ENSP00000489407.1:n.1326-165_1326-155del