Canonical Allele Identifier: CA2657597336

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697411-GCGGCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697412_50697417del , CM000684.2:g.50697412_50697417del	GRCh38
NC_000022.10:g.51135840_51135845del , CM000684.1:g.51135840_51135845del	GRCh37
NC_000022.9:g.49482706_49482711del	NCBI36
NG_008607.2:g.27771_27776del
NG_070230.1:g.32990_32995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-152_948-147del	ENSP00000489147.2:n.948-152_948-147del
ENST00000414786.7:n.1532-152_1532-147del
ENST00000673971.2:c.1305-152_1305-147del	ENSP00000501192.1:n.1305-152_1305-147del
ENST00000262795.6:c.948-152_948-147del	ENSP00000489147.2:n.948-152_948-147del
ENST00000673971.1:c.1305-152_1305-147del	ENSP00000501192.1:n.1305-152_1305-147del
ENST00000262795.5:c.1344+145_1345-148del	ENSP00000489147.1:n.1344+145_1345-148del
ENST00000414786.6:n.1532-152_1532-147del
ENST00000445220.5:c.1326-152_1326-147del	ENSP00000489407.1:n.1326-152_1326-147del