Canonical Allele Identifier: CA2657598927

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697648-CGCCGTGAAGGCGCACAGCCCGCAGGGTGAAGGCGAGATCCCGCTGCACCGCGGCGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697659_50697715del , CM000684.2:g.50697659_50697715del	GRCh38
NC_000022.10:g.51136087_51136143del , CM000684.1:g.51136087_51136143del	GRCh37
NC_000022.9:g.49482953_49483009del	NCBI36
NG_008607.2:g.28305_28361del
NG_070230.1:g.33524_33580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1043_1099del	ENSP00000489147.2:p.Ala348_Lys366del
ENST00000414786.7:n.1627_1683del
ENST00000445220.7:c.95_151del	ENSP00000489407.2:p.Ala32_Lys50del
ENST00000673971.2:c.1400_1456del	ENSP00000501192.1:p.Ala467_Lys485del
ENST00000445220.6:c.95_151del	ENSP00000489407.2:p.Ala32_Lys50del
ENST00000262795.6:c.1043_1099del	ENSP00000489147.2:p.Ala348_Lys366del
ENST00000673971.1:c.1400_1456del	ENSP00000501192.1:p.Ala467_Lys485del
ENST00000673995.1:c.96_152del
ENST00000262795.5:c.1439_1495del	ENSP00000489147.1:p.Ala480_Lys498del
ENST00000414786.6:n.1627_1683del
ENST00000445220.5:c.1421_1477del	ENSP00000489407.1:p.Ala474_Lys492del