Canonical Allele Identifier: CA824040709

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1158028929
• MyVariant Identifiers: chr6:g.33411197_33411214del (hg19) ; chr6:g.33443420_33443437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443434_33443451del , CM000668.2:g.33443434_33443451del	GRCh38
NC_000006.11:g.33411211_33411228del , CM000668.1:g.33411211_33411228del	GRCh37
NC_000006.10:g.33519189_33519206del	NCBI36
NG_016137.1:g.28365_28382del
NG_016137.2:g.28365_28382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2624_2641del (SYNGAP1)	ENSP00000507403.1:p.His875_His880del
ENST00000418600.7:c.2882_2899del (SYNGAP1)	ENSP00000403636.3:p.His961_His966del
ENST00000449372.7:c.2840_2857del (SYNGAP1)	ENSP00000416519.4:p.His947_His952del
ENST00000629380.3:c.2882_2899del (SYNGAP1)	ENSP00000486463.1:p.His961_His966del
ENST00000644458.1:c.2882_2899del (SYNGAP1)	ENSP00000495541.1:p.His961_His966del
ENST00000645250.1:c.2705_2722del (SYNGAP1)	ENSP00000494861.1:p.His902_His907del
ENST00000646630.1:c.2882_2899del (SYNGAP1) MANE Select	ENSP00000496007.1:p.His961_His966del
ENST00000293748.9:c.2837_2854del (SYNGAP1)	ENSP00000293748.6:p.His946_His951del
ENST00000418600.6:c.2882_2899del (SYNGAP1)	ENSP00000403636.3:p.His961_His966del
ENST00000428982.4:c.2705_2722del (SYNGAP1)	ENSP00000412475.2:p.His902_His907del
ENST00000449372.6:c.2840_2857del (SYNGAP1)	ENSP00000416519.3:p.His947_His952del
ENST00000628646.2:c.2882_2899del (SYNGAP1)	ENSP00000486431.1:p.His961_His966del
ENST00000629380.2:c.2882_2899del (SYNGAP1)	ENSP00000486463.1:p.His961_His966del
NM_006772.2:c.2882_2899del (SYNGAP1)	NP_006763.2:p.His961_His966del
NM_001130066.1:c.2840_2857del (SYNGAP1)	NP_001123538.1:p.His947_His952del
NM_001130066.2:c.2840_2857del (SYNGAP1)	NP_001123538.1:p.His947_His952del
NM_006772.3:c.2882_2899del (SYNGAP1) MANE Select	NP_006763.2:p.His961_His966del
NR_174954.1:n.329+3169_329+3186del (SYNGAP1-AS1)