Canonical Allele Identifier: CA10584020
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242918
ClinVar RCV Id: RCV000234890
dbSNP Id: rs879253762
MyVariant Identifiers: chr6:g.33410907_33410908del (hg19) chr6:g.33443130_33443131del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443130_33443131del , CM000668.2:g.33443130_33443131del GRCh38
NC_000006.11:g.33410907_33410908del , CM000668.1:g.33410907_33410908del GRCh37
NC_000006.10:g.33518885_33518886del NCBI36
NG_016137.1:g.28061_28062del
NG_016137.2:g.28061_28062del

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.2320_2321del (SYNGAP1) ENSP00000507403.1:p.Val774PhefsTer?
ENST00000418600.7:c.2578_2579del (SYNGAP1) ENSP00000403636.3:p.Val860PhefsTer?
ENST00000449372.7:c.2536_2537del (SYNGAP1) ENSP00000416519.4:p.Val846PhefsTer?
ENST00000629380.3:c.2578_2579del (SYNGAP1) ENSP00000486463.1:p.Val860PhefsTer?
ENST00000644458.1:c.2578_2579del (SYNGAP1) ENSP00000495541.1:p.Val860PhefsTer?
ENST00000645250.1:c.2401_2402del (SYNGAP1) ENSP00000494861.1:p.Val801PhefsTer?
ENST00000646630.1:c.2578_2579del (SYNGAP1) MANE Select ENSP00000496007.1:p.Val860PhefsTer?
ENST00000293748.9:c.2533_2534del (SYNGAP1) ENSP00000293748.6:p.Val845PhefsTer?
ENST00000418600.6:c.2578_2579del (SYNGAP1) ENSP00000403636.3:p.Val860PhefsTer?
ENST00000428982.4:c.2401_2402del (SYNGAP1) ENSP00000412475.2:p.Val801PhefsTer?
ENST00000449372.6:c.2536_2537del (SYNGAP1) ENSP00000416519.3:p.Val846PhefsTer?
ENST00000628646.2:c.2578_2579del (SYNGAP1) ENSP00000486431.1:p.Val860PhefsTer?
ENST00000629380.2:c.2578_2579del (SYNGAP1) ENSP00000486463.1:p.Val860PhefsTer?
NM_006772.2:c.2578_2579del (SYNGAP1) NP_006763.2:p.Val860PhefsTer?
NM_001130066.1:c.2536_2537del (SYNGAP1) NP_001123538.1:p.Val846PhefsTer?
NM_001130066.2:c.2536_2537del (SYNGAP1) NP_001123538.1:p.Val846PhefsTer?
NM_006772.3:c.2578_2579del (SYNGAP1) MANE Select NP_006763.2:p.Val860PhefsTer?
NR_174954.1:n.329+3477_329+3478del (SYNGAP1-AS1)
Search 100 bp 5'
Search 100 bp 3'