Canonical Allele Identifier: CA645606518
Community Standard Title: NM_203446.3(SYNJ1):c.3126del (p.Ser1043AlafsTer?)
Gene: SYNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32646518del , CM000683.2:g.32646518del GRCh38
NC_000021.8:g.34018828del , CM000683.1:g.34018828del GRCh37
NC_000021.7:g.32940699del NCBI36
NG_030017.1:g.86528del

Transcript Alleles

HGVS Amino-acid Change
NM_203446.3:c.3126del MANE Select NP_982271.3:p.Ser1043AlafsTer?
ENST00000674351.1:c.3126del MANE Select ENSP00000501530.1:p.Ser1043AlafsTer?
NM_001160302.1:c.3126del NP_001153774.1:p.Ser1043AlafsTer?
NM_001160306.1:c.3111del NP_001153778.1:p.Ser1038AlafsTer?
NM_001160306.2:c.3111del NP_001153778.1:p.Ser1038AlafsTer?
NM_003895.3:c.3243del NP_003886.3:p.Ser1082AlafsTer?
NM_203446.2:c.3243del NP_982271.2:p.Ser1082AlafsTer?
ENST00000357345.7:c.3126del ENSP00000349903.3:p.Ser1043AlafsTer?
ENST00000382491.7:c.3111del ENSP00000371931.4:p.Ser1038AlafsTer?
ENST00000382499.6:c.3243del ENSP00000371939.2:p.Ser1082AlafsTer?
ENST00000382499.7:c.3243del ENSP00000371939.2:p.Ser1082AlafsTer?
ENST00000433931.6:c.3243del ENSP00000409667.2:p.Ser1082AlafsTer?
ENST00000433931.7:c.3243del ENSP00000409667.2:p.Ser1082AlafsTer?
ENST00000630077.2:c.3111del ENSP00000487560.1:p.Ser1038AlafsTer?
ENST00000630077.3:c.3111del ENSP00000487560.1:p.Ser1038AlafsTer?
ENST00000674204.1:c.3126del ENSP00000501504.1:p.Ser1043AlafsTer?
ENST00000674308.1:c.3126del ENSP00000501426.1:p.Ser1043AlafsTer?
XM_017028494.1:c.3126del XP_016883983.1:p.Ser1043AlafsTer?
XM_017028495.2:c.3228del XP_016883984.1:p.Ser1077AlafsTer?
XM_017028496.1:c.3126del XP_016883985.1:p.Ser1043AlafsTer?
XM_017028497.2:c.3243del XP_016883986.1:p.Ser1082AlafsTer?
XM_017028498.1:c.3126del XP_016883987.1:p.Ser1043AlafsTer?
XM_017028499.2:c.3228del XP_016883988.1:p.Ser1077AlafsTer?
XM_017028500.1:c.3126del XP_016883989.1:p.Ser1043AlafsTer?
XM_017028501.1:c.3126del XP_016883990.1:p.Ser1043AlafsTer?
XM_017028502.1:c.3126del XP_016883991.1:p.Ser1043AlafsTer?
XM_017028503.1:c.3126del XP_016883992.1:p.Ser1043AlafsTer?
XM_017028504.1:c.3126del XP_016883993.1:p.Ser1043AlafsTer?
XM_017028505.2:c.3228del XP_016883994.1:p.Ser1077AlafsTer?