Canonical Allele Identifier: CA515260211

Gene: SHANK3

Linked Data

• dbSNP Id: rs1412226518
• gnomAD v2: 22-51159188-C-T
• gnomAD v3: 22-50720760-C-T
• gnomAD v4: 22-50720760-C-T
• MyVariant Identifiers: chr22:g.51159188C>T (hg19) ; chr22:g.51159188_51159191delinsTCGG (hg19) ; chr22:g.50720760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720760C>T , CM000684.2:g.50720760C>T	GRCh38
NC_000022.10:g.51159188C>T , CM000684.1:g.51159188C>T	GRCh37
NC_000022.9:g.49506054C>T	NCBI36
NG_008607.2:g.51406C>T
NG_070230.1:g.56544C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2528C>T	ENSP00000489147.2:p.Pro843Leu
ENST00000414786.7:n.3112C>T
ENST00000445220.7:c.1580C>T	ENSP00000489407.2:p.Pro527Leu
ENST00000664402.2:c.1070C>T	ENSP00000499475.1:p.Pro357Leu
ENST00000673971.2:c.*1526C>T	ENSP00000501192.1:n.*1526C>T
ENST00000445220.6:c.1580C>T	ENSP00000489407.2:p.Pro527Leu
ENST00000262795.6:c.2528C>T	ENSP00000489147.2:p.Pro843Leu
ENST00000664402.1:c.1070C>T	ENSP00000499475.1:p.Pro357Leu
ENST00000673971.1:c.*1526C>T	ENSP00000501192.1:n.*1526C>T
ENST00000262795.5:c.2924C>T	ENSP00000489147.1:p.Pro975Leu
ENST00000414786.6:n.3112C>T
ENST00000445220.5:c.2906C>T	ENSP00000489407.1:p.Pro969Leu