Canonical Allele Identifier: CA2819325422
Gene: SHANK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697535_50697582del , CM000684.2:g.50697535_50697582del GRCh38
NC_000022.10:g.51135963_51136010del , CM000684.1:g.51135963_51136010del GRCh37
NC_000022.9:g.49482829_49482876del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-29_966del
ENST00000414786.7:n.1532-29_1550del
ENST00000673971.2:c.1305-29_1323del
ENST00000262795.6:c.948-29_966del
ENST00000673971.1:c.1305-29_1323del
ENST00000262795.5:c.1345-30_1362del
ENST00000414786.6:n.1532-29_1550del
ENST00000445220.5:c.1326-29_1344del