Canonical Allele Identifier: CA2657599862

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697843-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697843_50697844insA , CM000684.2:g.50697843_50697844insA	GRCh38
NC_000022.10:g.51136271_51136272insA , CM000684.1:g.51136271_51136272insA	GRCh37
NC_000022.9:g.49483137_49483138insA	NCBI36
NG_008607.2:g.28489_28490insA
NG_070230.1:g.33707_33708insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+128_1099+129insA	ENSP00000489147.2:n.1099+128_1099+129insA
ENST00000414786.7:n.1683+128_1683+129insA
ENST00000445220.7:c.151+128_151+129insA	ENSP00000489407.2:n.151+128_151+129insA
ENST00000673971.2:c.1456+128_1456+129insA	ENSP00000501192.1:n.1456+128_1456+129insA
ENST00000445220.6:c.151+128_151+129insA	ENSP00000489407.2:n.151+128_151+129insA
ENST00000262795.6:c.1099+128_1099+129insA	ENSP00000489147.2:n.1099+128_1099+129insA
ENST00000673971.1:c.1456+128_1456+129insA	ENSP00000501192.1:n.1456+128_1456+129insA
ENST00000673995.1:c.152+128_152+129insA
ENST00000262795.5:c.1495+128_1495+129insA	ENSP00000489147.1:n.1495+128_1495+129insA
ENST00000414786.6:n.1683+128_1683+129insA
ENST00000445220.5:c.1477+128_1477+129insA	ENSP00000489407.1:n.1477+128_1477+129insA