Canonical Allele Identifier: CA1087671725

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• gnomAD v3: 6-33443390-AGGGGGCGGTGGCCATGGCCCACCTTCCTCCCATCACCACCACCACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGG-A
• gnomAD v4: 6-33443390-AGGGGGCGGTGGCCATGGCCCACCTTCCTCCCATCACCACCACCACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443392_33443472del , CM000668.2:g.33443392_33443472del	GRCh38
NC_000006.11:g.33411169_33411249del , CM000668.1:g.33411169_33411249del	GRCh37
NC_000006.10:g.33519147_33519227del	NCBI36
NG_016137.1:g.28323_28403del
NG_016137.2:g.28323_28403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2582_2662del (SYNGAP1)	ENSP00000507403.1:p.Gly861_Gly887del
ENST00000418600.7:c.2840_2920del (SYNGAP1)	ENSP00000403636.3:p.Gly947_Gly973del
ENST00000449372.7:c.2798_2878del (SYNGAP1)	ENSP00000416519.4:p.Gly933_Gly959del
ENST00000629380.3:c.2840_2920del (SYNGAP1)	ENSP00000486463.1:p.Gly947_Gly973del
ENST00000644458.1:c.2840_2920del (SYNGAP1)	ENSP00000495541.1:p.Gly947_Gly973del
ENST00000645250.1:c.2663_2743del (SYNGAP1)	ENSP00000494861.1:p.Gly888_Gly914del
ENST00000646630.1:c.2840_2920del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Gly947_Gly973del
ENST00000293748.9:c.2795_2875del (SYNGAP1)	ENSP00000293748.6:p.Gly932_Gly958del
ENST00000418600.6:c.2840_2920del (SYNGAP1)	ENSP00000403636.3:p.Gly947_Gly973del
ENST00000428982.4:c.2663_2743del (SYNGAP1)	ENSP00000412475.2:p.Gly888_Gly914del
ENST00000449372.6:c.2798_2878del (SYNGAP1)	ENSP00000416519.3:p.Gly933_Gly959del
ENST00000628646.2:c.2840_2920del (SYNGAP1)	ENSP00000486431.1:p.Gly947_Gly973del
ENST00000629380.2:c.2840_2920del (SYNGAP1)	ENSP00000486463.1:p.Gly947_Gly973del
NM_006772.2:c.2840_2920del (SYNGAP1)	NP_006763.2:p.Gly947_Gly973del
NM_001130066.1:c.2798_2878del (SYNGAP1)	NP_001123538.1:p.Gly933_Gly959del
NM_001130066.2:c.2798_2878del (SYNGAP1)	NP_001123538.1:p.Gly933_Gly959del
NM_006772.3:c.2840_2920del (SYNGAP1) MANE Select	NP_006763.2:p.Gly947_Gly973del
NR_174954.1:n.329+3135_329+3215del (SYNGAP1-AS1)