Canonical Allele Identifier: CA2580098590
Community Standard Title: NM_203446.3(SYNJ1):c.3656dup (p.Thr1220AspfsTer3)
Gene: SYNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.32639712dup , CM000683.2:g.32639712dup GRCh38
NC_000021.8:g.34012022dup , CM000683.1:g.34012022dup GRCh37
NC_000021.7:g.32933893dup NCBI36
NG_030017.1:g.93330dup

Transcript Alleles

HGVS Amino-acid Change
NM_203446.3:c.3656dup MANE Select NP_982271.3:p.Thr1220AspfsTer3
ENST00000674351.1:c.3656dup MANE Select ENSP00000501530.1:p.Thr1220AspfsTer3
NM_001160302.1:c.3608dup NP_001153774.1:p.Thr1204AspfsTer3
NM_001160306.1:c.3515dup NP_001153778.1:p.Thr1173AspfsTer3
NM_001160306.2:c.3515dup NP_001153778.1:p.Thr1173AspfsTer3
NM_003895.3:c.3773dup NP_003886.3:p.Thr1259AspfsTer3
NM_203446.2:c.3773dup NP_982271.2:p.Thr1259AspfsTer3
ENST00000357345.7:c.3608dup ENSP00000349903.3:p.Thr1204AspfsTer3
ENST00000382491.7:c.3515dup ENSP00000371931.4:p.Thr1173AspfsTer3
ENST00000382499.6:c.3773dup ENSP00000371939.2:p.Thr1259AspfsTer3
ENST00000382499.7:c.3773dup ENSP00000371939.2:p.Thr1259AspfsTer3
ENST00000418301.3:c.118dup
ENST00000433931.6:c.3773dup ENSP00000409667.2:p.Thr1259AspfsTer3
ENST00000433931.7:c.3773dup ENSP00000409667.2:p.Thr1259AspfsTer3
ENST00000438952.5:c.282dup
ENST00000630077.2:c.3515dup ENSP00000487560.1:p.Thr1173AspfsTer3
ENST00000630077.3:c.3515dup ENSP00000487560.1:p.Thr1173AspfsTer3
ENST00000674204.1:c.3656dup ENSP00000501504.1:p.Thr1220AspfsTer3
ENST00000674308.1:c.3656dup ENSP00000501426.1:p.Thr1220AspfsTer3
XM_017028494.1:c.3608dup XP_016883983.1:p.Thr1204AspfsTer3
XM_017028495.2:c.3758dup XP_016883984.1:p.Thr1254AspfsTer3
XM_017028496.1:c.3569dup XP_016883985.1:p.Thr1191AspfsTer3
XM_017028497.2:c.3725dup XP_016883986.1:p.Thr1243AspfsTer3
XM_017028498.1:c.3530dup XP_016883987.1:p.Thr1178AspfsTer3
XM_017028499.2:c.3632dup XP_016883988.1:p.Thr1212AspfsTer3
XM_017028500.1:c.3656dup XP_016883989.1:p.Thr1220AspfsTer3
XM_017028501.1:c.3656dup XP_016883990.1:p.Thr1220AspfsTer3
XM_017028502.1:c.3608dup XP_016883991.1:p.Thr1204AspfsTer3
XM_017028503.1:c.3569dup XP_016883992.1:p.Thr1191AspfsTer3
XM_017028504.1:c.3530dup XP_016883993.1:p.Thr1178AspfsTer3
XM_017028505.2:c.3632dup XP_016883994.1:p.Thr1212AspfsTer3