Canonical Allele Identifier: CA2657582845

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720291-GCGCCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720299_50720355del , CM000684.2:g.50720299_50720355del	GRCh38
NC_000022.10:g.51158727_51158783del , CM000684.1:g.51158727_51158783del	GRCh37
NC_000022.9:g.49505593_49505649del	NCBI36
NG_008607.2:g.50945_51001del
NG_070230.1:g.56083_56139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2067_2123del	ENSP00000489147.2:p.Pro690_Pro708del
ENST00000414786.7:n.2651_2707del
ENST00000445220.7:c.1119_1175del	ENSP00000489407.2:p.Pro374_Pro392del
ENST00000664402.2:c.609_665del	ENSP00000499475.1:p.Pro204_Pro222del
ENST00000673971.2:c.*1065_*1121del	ENSP00000501192.1:n.*1065_*1121del
ENST00000445220.6:c.1119_1175del	ENSP00000489407.2:p.Pro374_Pro392del
ENST00000262795.6:c.2067_2123del	ENSP00000489147.2:p.Pro690_Pro708del
ENST00000664402.1:c.609_665del	ENSP00000499475.1:p.Pro204_Pro222del
ENST00000673971.1:c.*1065_*1121del	ENSP00000501192.1:n.*1065_*1121del
ENST00000262795.5:c.2463_2519del	ENSP00000489147.1:p.Pro822_Pro840del
ENST00000414786.6:n.2651_2707del
ENST00000445220.5:c.2445_2501del	ENSP00000489407.1:p.Pro816_Pro834del