Canonical Allele Identifier: CA2695206230

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446649_33446650del , CM000668.2:g.33446649_33446650del	GRCh38
NC_000006.11:g.33414426_33414427del , CM000668.1:g.33414426_33414427del	GRCh37
NC_000006.10:g.33522404_33522405del	NCBI36
NG_016137.1:g.31580_31581del
NG_016137.2:g.31580_31581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3399_3400del (SYNGAP1)	ENSP00000507403.1:p.Tyr1133Ter
ENST00000418600.7:c.3657_3658del (SYNGAP1)	ENSP00000403636.3:p.Tyr1219Ter
ENST00000449372.7:c.3609_3610del (SYNGAP1)	ENSP00000416519.4:p.Tyr1203Ter
ENST00000629380.3:c.3657_3658del (SYNGAP1)	ENSP00000486463.1:p.Tyr1219Ter
ENST00000644458.1:c.3657_3658del (SYNGAP1)	ENSP00000495541.1:p.Tyr1219Ter
ENST00000645250.1:c.3480_3481del (SYNGAP1)	ENSP00000494861.1:p.Tyr1160Ter
ENST00000646630.1:c.3657_3658del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Tyr1219Ter
ENST00000293748.9:c.3612_3613del (SYNGAP1)	ENSP00000293748.6:p.Tyr1204Ter
ENST00000418600.6:c.3657_3658del (SYNGAP1)	ENSP00000403636.3:p.Tyr1219Ter
ENST00000428982.4:c.3480_3481del (SYNGAP1)	ENSP00000412475.2:p.Tyr1160Ter
ENST00000449372.6:c.3609_3610del (SYNGAP1)	ENSP00000416519.3:p.Tyr1203Ter
ENST00000628646.2:c.3657_3658del (SYNGAP1)	ENSP00000486431.1:p.Tyr1219Ter
ENST00000629380.2:c.3657_3658del (SYNGAP1)	ENSP00000486463.1:p.Tyr1219Ter
NM_006772.2:c.3657_3658del (SYNGAP1)	NP_006763.2:p.Tyr1219Ter
NM_001130066.1:c.3609_3610del (SYNGAP1)	NP_001123538.1:p.Tyr1203Ter
NM_001130066.2:c.3609_3610del (SYNGAP1)	NP_001123538.1:p.Tyr1203Ter
NM_006772.3:c.3657_3658del (SYNGAP1) MANE Select	NP_006763.2:p.Tyr1219Ter
NR_174954.1:n.285_286del (SYNGAP1-AS1)