Canonical Allele Identifier: CA1620014651

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443467_33443468delinsCT , CM000668.2:g.33443467_33443468delinsCT	GRCh38
NC_000006.11:g.33411244_33411245delinsCT , CM000668.1:g.33411244_33411245delinsCT	GRCh37
NC_000006.10:g.33519222_33519223delinsCT	NCBI36
NG_016137.1:g.28398_28399delinsCT
NG_016137.2:g.28398_28399delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2657_2658delinsCT (SYNGAP1)	ENSP00000507403.1:p.Pro886=
ENST00000418600.7:c.2915_2916delinsCT (SYNGAP1)	ENSP00000403636.3:p.Pro972=
ENST00000449372.7:c.2873_2874delinsCT (SYNGAP1)	ENSP00000416519.4:p.Pro958=
ENST00000629380.3:c.2915_2916delinsCT (SYNGAP1)	ENSP00000486463.1:p.Pro972=
ENST00000644458.1:c.2915_2916delinsCT (SYNGAP1)	ENSP00000495541.1:p.Pro972=
ENST00000645250.1:c.2738_2739delinsCT (SYNGAP1)	ENSP00000494861.1:p.Pro913=
ENST00000646630.1:c.2915_2916delinsCT (SYNGAP1) MANE Select	ENSP00000496007.1:p.Pro972=
ENST00000293748.9:c.2870_2871delinsCT (SYNGAP1)	ENSP00000293748.6:p.Pro957=
ENST00000418600.6:c.2915_2916delinsCT (SYNGAP1)	ENSP00000403636.3:p.Pro972=
ENST00000428982.4:c.2738_2739delinsCT (SYNGAP1)	ENSP00000412475.2:p.Pro913=
ENST00000449372.6:c.2873_2874delinsCT (SYNGAP1)	ENSP00000416519.3:p.Pro958=
ENST00000628646.2:c.2915_2916delinsCT (SYNGAP1)	ENSP00000486431.1:p.Pro972=
ENST00000629380.2:c.2915_2916delinsCT (SYNGAP1)	ENSP00000486463.1:p.Pro972=
NM_006772.2:c.2915_2916delinsCT (SYNGAP1)	NP_006763.2:p.Pro972=
NM_001130066.1:c.2873_2874delinsCT (SYNGAP1)	NP_001123538.1:p.Pro958=
NM_001130066.2:c.2873_2874delinsCT (SYNGAP1)	NP_001123538.1:p.Pro958=
NM_006772.3:c.2915_2916delinsCT (SYNGAP1) MANE Select	NP_006763.2:p.Pro972=
NR_174954.1:n.329+3138_329+3139delinsAG (SYNGAP1-AS1)