Canonical Allele Identifier: CA16043254

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 372707
• ClinVar RCV Id: RCV000413185 ; RCV000509224 ; RCV000754674 ; RCV000990465
• dbSNP Id: rs1555910143
• MyVariant Identifiers: chr22:g.51159685_51159686del (hg19) ; chr22:g.50721257_50721258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721257_50721258del , CM000684.2:g.50721257_50721258del	GRCh38
NC_000022.10:g.51159685_51159686del , CM000684.1:g.51159685_51159686del	GRCh37
NC_000022.9:g.49506551_49506552del	NCBI36
NG_008607.2:g.51903_51904del
NG_070230.1:g.57041_57042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3025_3026del	ENSP00000489147.2:p.Leu1009ValfsTer?
ENST00000414786.7:n.3609_3610del
ENST00000445220.7:c.2077_2078del	ENSP00000489407.2:p.Leu693ValfsTer?
ENST00000664402.2:c.1567_1568del	ENSP00000499475.1:p.Leu523ValfsTer?
ENST00000673971.2:c.*2023_*2024del	ENSP00000501192.1:n.*2023_*2024del
ENST00000445220.6:c.2077_2078del	ENSP00000489407.2:p.Leu693ValfsTer?
ENST00000262795.6:c.3025_3026del	ENSP00000489147.2:p.Leu1009ValfsTer?
ENST00000664402.1:c.1567_1568del	ENSP00000499475.1:p.Leu523ValfsTer?
ENST00000673971.1:c.*2023_*2024del	ENSP00000501192.1:n.*2023_*2024del
ENST00000262795.5:c.3421_3422del	ENSP00000489147.1:p.Leu1141ValfsTer?
ENST00000414786.6:n.3609_3610del
ENST00000445220.5:c.3403_3404del	ENSP00000489407.1:p.Leu1135ValfsTer?