Canonical Allele Identifier: CA2657598689

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697597-C-CGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697597_50697598insGTG , CM000684.2:g.50697597_50697598insGTG	GRCh38
NC_000022.10:g.51136025_51136026insGTG , CM000684.1:g.51136025_51136026insGTG	GRCh37
NC_000022.9:g.49482891_49482892insGTG	NCBI36
NG_008607.2:g.28243_28244insGTG
NG_070230.1:g.33462_33463insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.981_982insGTG	ENSP00000489147.2:p.Pro327_Arg328insVal
ENST00000414786.7:n.1565_1566insGTG
ENST00000445220.7:c.33_34insGTG	ENSP00000489407.2:p.Pro11_Arg12insVal
ENST00000673971.2:c.1338_1339insGTG	ENSP00000501192.1:p.Pro446_Arg447insVal
ENST00000445220.6:c.33_34insGTG	ENSP00000489407.2:p.Pro11_Arg12insVal
ENST00000262795.6:c.981_982insGTG	ENSP00000489147.2:p.Pro327_Arg328insVal
ENST00000673971.1:c.1338_1339insGTG	ENSP00000501192.1:p.Pro446_Arg447insVal
ENST00000673995.1:c.34_35insGTG
ENST00000262795.5:c.1377_1378insGTG	ENSP00000489147.1:p.Pro459_Arg460insVal
ENST00000414786.6:n.1565_1566insGTG
ENST00000445220.5:c.1359_1360insGTG	ENSP00000489407.1:p.Pro453_Arg454insVal