Canonical Allele Identifier: CA640359022

Gene: SHANK3

Linked Data

• dbSNP Id: rs1236636061
• gnomAD v2: 22-51136028-G-GGCGCGGCGGCAC
• gnomAD v3: 22-50697600-G-GGCGCGGCGGCAC
• gnomAD v4: 22-50697600-G-GGCGCGGCGGCAC
• MyVariant Identifiers: chr22:g.51136028_51136029insGCGCGGCGGCAC (hg19) ; chr22:g.50697600_50697601insGCGCGGCGGCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697601_50697602insCGCGGCGGCACG , CM000684.2:g.50697601_50697602insCGCGGCGGCACG	GRCh38
NC_000022.10:g.51136029_51136030insCGCGGCGGCACG , CM000684.1:g.51136029_51136030insCGCGGCGGCACG	GRCh37
NC_000022.9:g.49482895_49482896insCGCGGCGGCACG	NCBI36
NG_008607.2:g.28247_28248insCGCGGCGGCACG
NG_070230.1:g.33466_33467insCGCGGCGGCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.985_986insCGCGGCGGCACG	ENSP00000489147.2:p.Arg328_Gly329insAlaArgArgHis
ENST00000414786.7:n.1569_1570insCGCGGCGGCACG
ENST00000445220.7:c.37_38insCGCGGCGGCACG	ENSP00000489407.2:p.Arg12_Gly13insAlaArgArgHis
ENST00000673971.2:c.1342_1343insCGCGGCGGCACG	ENSP00000501192.1:p.Arg447_Gly448insAlaArgArgHis
ENST00000445220.6:c.37_38insCGCGGCGGCACG	ENSP00000489407.2:p.Arg12_Gly13insAlaArgArgHis
ENST00000262795.6:c.985_986insCGCGGCGGCACG	ENSP00000489147.2:p.Arg328_Gly329insAlaArgArgHis
ENST00000673971.1:c.1342_1343insCGCGGCGGCACG	ENSP00000501192.1:p.Arg447_Gly448insAlaArgArgHis
ENST00000673995.1:c.38_39insCGCGGCGGCACG
ENST00000262795.5:c.1381_1382insCGCGGCGGCACG	ENSP00000489147.1:p.Arg460_Gly461insAlaArgArgHis
ENST00000414786.6:n.1569_1570insCGCGGCGGCACG
ENST00000445220.5:c.1363_1364insCGCGGCGGCACG	ENSP00000489407.1:p.Arg454_Gly455insAlaArgArgHis