Canonical Allele Identifier: CA1620014518

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443150_33443151delinsAG , CM000668.2:g.33443150_33443151delinsAG	GRCh38
NC_000006.11:g.33410927_33410928delinsAG , CM000668.1:g.33410927_33410928delinsAG	GRCh37
NC_000006.10:g.33518905_33518906delinsAG	NCBI36
NG_016137.1:g.28081_28082delinsAG
NG_016137.2:g.28081_28082delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2340_2341delinsAG (SYNGAP1)	ENSP00000507403.1:p.Val780=
ENST00000418600.7:c.2598_2599delinsAG (SYNGAP1)	ENSP00000403636.3:p.Val866=
ENST00000449372.7:c.2556_2557delinsAG (SYNGAP1)	ENSP00000416519.4:p.Val852=
ENST00000629380.3:c.2598_2599delinsAG (SYNGAP1)	ENSP00000486463.1:p.Val866=
ENST00000644458.1:c.2598_2599delinsAG (SYNGAP1)	ENSP00000495541.1:p.Val866=
ENST00000645250.1:c.2421_2422delinsAG (SYNGAP1)	ENSP00000494861.1:p.Val807=
ENST00000646630.1:c.2598_2599delinsAG (SYNGAP1) MANE Select	ENSP00000496007.1:p.Val866=
ENST00000293748.9:c.2553_2554delinsAG (SYNGAP1)	ENSP00000293748.6:p.Val851=
ENST00000418600.6:c.2598_2599delinsAG (SYNGAP1)	ENSP00000403636.3:p.Val866=
ENST00000428982.4:c.2421_2422delinsAG (SYNGAP1)	ENSP00000412475.2:p.Val807=
ENST00000449372.6:c.2556_2557delinsAG (SYNGAP1)	ENSP00000416519.3:p.Val852=
ENST00000628646.2:c.2598_2599delinsAG (SYNGAP1)	ENSP00000486431.1:p.Val866=
ENST00000629380.2:c.2598_2599delinsAG (SYNGAP1)	ENSP00000486463.1:p.Val866=
NM_006772.2:c.2598_2599delinsAG (SYNGAP1)	NP_006763.2:p.Val866=
NM_001130066.1:c.2556_2557delinsAG (SYNGAP1)	NP_001123538.1:p.Val852=
NM_001130066.2:c.2556_2557delinsAG (SYNGAP1)	NP_001123538.1:p.Val852=
NM_006772.3:c.2598_2599delinsAG (SYNGAP1) MANE Select	NP_006763.2:p.Val866=
NR_174954.1:n.329+3455_329+3456delinsCT (SYNGAP1-AS1)