Canonical Allele Identifier: CA2657597327

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697408-TCGGCGGCGAGGGGAGGGCGGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697409_50697430del , CM000684.2:g.50697409_50697430del	GRCh38
NC_000022.10:g.51135837_51135858del , CM000684.1:g.51135837_51135858del	GRCh37
NC_000022.9:g.49482703_49482724del	NCBI36
NG_008607.2:g.27768_27789del
NG_070230.1:g.32987_33008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-155_948-134del	ENSP00000489147.2:n.948-155_948-134del
ENST00000414786.7:n.1532-155_1532-134del
ENST00000673971.2:c.1305-155_1305-134del	ENSP00000501192.1:n.1305-155_1305-134del
ENST00000262795.6:c.948-155_948-134del	ENSP00000489147.2:n.948-155_948-134del
ENST00000673971.1:c.1305-155_1305-134del	ENSP00000501192.1:n.1305-155_1305-134del
ENST00000262795.5:c.1344+142_1345-135del	ENSP00000489147.1:n.1344+142_1345-135del
ENST00000414786.6:n.1532-155_1532-134del
ENST00000445220.5:c.1326-155_1326-134del	ENSP00000489407.1:n.1326-155_1326-134del