Canonical Allele Identifier: CA2657597310

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697405-GGGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697408_50697411del , CM000684.2:g.50697408_50697411del	GRCh38
NC_000022.10:g.51135836_51135839del , CM000684.1:g.51135836_51135839del	GRCh37
NC_000022.9:g.49482702_49482705del	NCBI36
NG_008607.2:g.27767_27770del
NG_070230.1:g.32986_32989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-156_948-153del	ENSP00000489147.2:n.948-156_948-153del
ENST00000414786.7:n.1532-156_1532-153del
ENST00000673971.2:c.1305-156_1305-153del	ENSP00000501192.1:n.1305-156_1305-153del
ENST00000262795.6:c.948-156_948-153del	ENSP00000489147.2:n.948-156_948-153del
ENST00000673971.1:c.1305-156_1305-153del	ENSP00000501192.1:n.1305-156_1305-153del
ENST00000262795.5:c.1344+141_1344+144del	ENSP00000489147.1:n.1344+141_1344+144del
ENST00000414786.6:n.1532-156_1532-153del
ENST00000445220.5:c.1326-156_1326-153del	ENSP00000489407.1:n.1326-156_1326-153del