Canonical Allele Identifier: CA2410995394

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697654_50697655delinsGA , CM000684.2:g.50697654_50697655delinsGA	GRCh38
NC_000022.10:g.51136082_51136083delinsGA , CM000684.1:g.51136082_51136083delinsGA	GRCh37
NC_000022.9:g.49482948_49482949delinsGA	NCBI36
NG_008607.2:g.28300_28301delinsGA
NG_070230.1:g.33519_33520delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1038_1039delinsGA	ENSP00000489147.2:p.Val346=
ENST00000414786.7:n.1622_1623delinsGA
ENST00000445220.7:c.90_91delinsGA	ENSP00000489407.2:p.Val30=
ENST00000673971.2:c.1395_1396delinsGA	ENSP00000501192.1:p.Val465=
ENST00000445220.6:c.90_91delinsGA	ENSP00000489407.2:p.Val30=
ENST00000262795.6:c.1038_1039delinsGA	ENSP00000489147.2:p.Val346=
ENST00000673971.1:c.1395_1396delinsGA	ENSP00000501192.1:p.Val465=
ENST00000673995.1:c.91_92delinsGA
ENST00000262795.5:c.1434_1435delinsGA	ENSP00000489147.1:p.Val478=
ENST00000414786.6:n.1622_1623delinsGA
ENST00000445220.5:c.1416_1417delinsGA	ENSP00000489407.1:p.Val472=