Canonical Allele Identifier: CA2740092005

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3064112
• ClinVar RCV Id: RCV003988700

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720797_50720810del , CM000684.2:g.50720797_50720810del	GRCh38
NC_000022.10:g.51159225_51159238del , CM000684.1:g.51159225_51159238del	GRCh37
NC_000022.9:g.49506091_49506104del	NCBI36
NG_008607.2:g.51443_51456del
NG_070230.1:g.56581_56594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2565_2578del	ENSP00000489147.2:p.His856ProfsTer?
ENST00000414786.7:n.3149_3162del
ENST00000445220.7:c.1617_1630del	ENSP00000489407.2:p.His540ProfsTer?
ENST00000664402.2:c.1107_1120del	ENSP00000499475.1:p.His370ProfsTer?
ENST00000673971.2:c.*1563_*1576del	ENSP00000501192.1:n.*1563_*1576del
ENST00000445220.6:c.1617_1630del	ENSP00000489407.2:p.His540ProfsTer?
ENST00000262795.6:c.2565_2578del	ENSP00000489147.2:p.His856ProfsTer?
ENST00000664402.1:c.1107_1120del	ENSP00000499475.1:p.His370ProfsTer?
ENST00000673971.1:c.*1563_*1576del	ENSP00000501192.1:n.*1563_*1576del
ENST00000262795.5:c.2961_2974del	ENSP00000489147.1:p.His988ProfsTer?
ENST00000414786.6:n.3149_3162del
ENST00000445220.5:c.2943_2956del	ENSP00000489407.1:p.His982ProfsTer?