Canonical Allele Identifier: CA2657598746

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697606-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697608del , CM000684.2:g.50697608del	GRCh38
NC_000022.10:g.51136036del , CM000684.1:g.51136036del	GRCh37
NC_000022.9:g.49482902del	NCBI36
NG_008607.2:g.28254del
NG_070230.1:g.33473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.992del	ENSP00000489147.2:p.Lys331SerfsTer16
ENST00000414786.7:n.1576del
ENST00000445220.7:c.44del	ENSP00000489407.2:p.Lys15SerfsTer16
ENST00000673971.2:c.1349del	ENSP00000501192.1:p.Lys450SerfsTer16
ENST00000445220.6:c.44del	ENSP00000489407.2:p.Lys15SerfsTer16
ENST00000262795.6:c.992del	ENSP00000489147.2:p.Lys331SerfsTer16
ENST00000673971.1:c.1349del	ENSP00000501192.1:p.Lys450SerfsTer16
ENST00000673995.1:c.45del
ENST00000262795.5:c.1388del	ENSP00000489147.1:p.Lys463SerfsTer16
ENST00000414786.6:n.1576del
ENST00000445220.5:c.1370del	ENSP00000489407.1:p.Lys457SerfsTer16