Canonical Allele Identifier: CA640359024

Gene: SHANK3

Linked Data

• dbSNP Id: rs1488615016
• gnomAD v2: 22-51136033-C-CAT
• gnomAD v3: 22-50697605-C-CAT
• gnomAD v4: 22-50697605-C-CAT
• MyVariant Identifiers: chr22:g.51136033_51136034insAT (hg19) ; chr22:g.50697605_50697606insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697605_50697606insAT , CM000684.2:g.50697605_50697606insAT	GRCh38
NC_000022.10:g.51136033_51136034insAT , CM000684.1:g.51136033_51136034insAT	GRCh37
NC_000022.9:g.49482899_49482900insAT	NCBI36
NG_008607.2:g.28251_28252insAT
NG_070230.1:g.33470_33471insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.989_990insAT	ENSP00000489147.2:p.Lys331Ter
ENST00000414786.7:n.1573_1574insAT
ENST00000445220.7:c.41_42insAT	ENSP00000489407.2:p.Lys15Ter
ENST00000673971.2:c.1346_1347insAT	ENSP00000501192.1:p.Lys450Ter
ENST00000445220.6:c.41_42insAT	ENSP00000489407.2:p.Lys15Ter
ENST00000262795.6:c.989_990insAT	ENSP00000489147.2:p.Lys331Ter
ENST00000673971.1:c.1346_1347insAT	ENSP00000501192.1:p.Lys450Ter
ENST00000673995.1:c.42_43insAT
ENST00000262795.5:c.1385_1386insAT	ENSP00000489147.1:p.Lys463Ter
ENST00000414786.6:n.1573_1574insAT
ENST00000445220.5:c.1367_1368insAT	ENSP00000489407.1:p.Lys457Ter