Canonical Allele Identifier: CA1026687736

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697597-C-CTGG
• gnomAD v4: 22-50697597-C-CTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697597_50697598insTGG , CM000684.2:g.50697597_50697598insTGG	GRCh38
NC_000022.10:g.51136025_51136026insTGG , CM000684.1:g.51136025_51136026insTGG	GRCh37
NC_000022.9:g.49482891_49482892insTGG	NCBI36
NG_008607.2:g.28243_28244insTGG
NG_070230.1:g.33462_33463insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.981_982insTGG	ENSP00000489147.2:p.Pro327_Arg328insTrp
ENST00000414786.7:n.1565_1566insTGG
ENST00000445220.7:c.33_34insTGG	ENSP00000489407.2:p.Pro11_Arg12insTrp
ENST00000673971.2:c.1338_1339insTGG	ENSP00000501192.1:p.Pro446_Arg447insTrp
ENST00000445220.6:c.33_34insTGG	ENSP00000489407.2:p.Pro11_Arg12insTrp
ENST00000262795.6:c.981_982insTGG	ENSP00000489147.2:p.Pro327_Arg328insTrp
ENST00000673971.1:c.1338_1339insTGG	ENSP00000501192.1:p.Pro446_Arg447insTrp
ENST00000673995.1:c.34_35insTGG
ENST00000262795.5:c.1377_1378insTGG	ENSP00000489147.1:p.Pro459_Arg460insTrp
ENST00000414786.6:n.1565_1566insTGG
ENST00000445220.5:c.1359_1360insTGG	ENSP00000489407.1:p.Pro453_Arg454insTrp