Canonical Allele Identifier: CA2578585564

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• gnomAD v4: 6-33443378-AGGCGGCCATGGAGGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443381_33443398del , CM000668.2:g.33443381_33443398del	GRCh38
NC_000006.11:g.33411158_33411175del , CM000668.1:g.33411158_33411175del	GRCh37
NC_000006.10:g.33519136_33519153del	NCBI36
NG_016137.1:g.28312_28329del
NG_016137.2:g.28312_28329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2571_2588del (SYNGAP1)	ENSP00000507403.1:p.Gly858_Gly863del
ENST00000418600.7:c.2829_2846del (SYNGAP1)	ENSP00000403636.3:p.Gly944_Gly949del
ENST00000449372.7:c.2787_2804del (SYNGAP1)	ENSP00000416519.4:p.Gly930_Gly935del
ENST00000629380.3:c.2829_2846del (SYNGAP1)	ENSP00000486463.1:p.Gly944_Gly949del
ENST00000644458.1:c.2829_2846del (SYNGAP1)	ENSP00000495541.1:p.Gly944_Gly949del
ENST00000645250.1:c.2652_2669del (SYNGAP1)	ENSP00000494861.1:p.Gly885_Gly890del
ENST00000646630.1:c.2829_2846del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Gly944_Gly949del
ENST00000293748.9:c.2784_2801del (SYNGAP1)	ENSP00000293748.6:p.Gly929_Gly934del
ENST00000418600.6:c.2829_2846del (SYNGAP1)	ENSP00000403636.3:p.Gly944_Gly949del
ENST00000428982.4:c.2652_2669del (SYNGAP1)	ENSP00000412475.2:p.Gly885_Gly890del
ENST00000449372.6:c.2787_2804del (SYNGAP1)	ENSP00000416519.3:p.Gly930_Gly935del
ENST00000628646.2:c.2829_2846del (SYNGAP1)	ENSP00000486431.1:p.Gly944_Gly949del
ENST00000629380.2:c.2829_2846del (SYNGAP1)	ENSP00000486463.1:p.Gly944_Gly949del
NM_006772.2:c.2829_2846del (SYNGAP1)	NP_006763.2:p.Gly944_Gly949del
NM_001130066.1:c.2787_2804del (SYNGAP1)	NP_001123538.1:p.Gly930_Gly935del
NM_001130066.2:c.2787_2804del (SYNGAP1)	NP_001123538.1:p.Gly930_Gly935del
NM_006772.3:c.2829_2846del (SYNGAP1) MANE Select	NP_006763.2:p.Gly944_Gly949del
NR_174954.1:n.329+3210_329+3227del (SYNGAP1-AS1)