Linked Data
dbSNP Id:
rs779465251
ExAC:
16:3293391 T / TA
gnomAD v2:
16-3293391-T-TA
gnomAD v4:
16-3243391-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243392dup , CM000678.2:g.3243392dup | GRCh38 |
| NC_000016.9:g.3293392dup , CM000678.1:g.3293392dup | GRCh37 |
| NC_000016.8:g.3233393dup | NCBI36 |
| NG_007871.1:g.18236dup , LRG_190:g.18236dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1216dup | ||
| ENST00000219596.6:c.2095dup MANE Select | ENSP00000219596.1:p.Tyr699LeufsTer? | |
| ENST00000219596.5:c.2095dup | ENSP00000219596.1:p.Tyr699LeufsTer? | |
| ENST00000339854.8:c.1555dup | ENSP00000339639.4:p.Tyr519LeufsTer? | |
| ENST00000536379.5:c.1462dup | ENSP00000445079.1:p.Tyr488LeufsTer? | |
| ENST00000536980.5:c.*371dup | ENSP00000444178.1:n.*371dup | |
| ENST00000537682.5:c.*371dup | ENSP00000438611.1:n.*371dup | |
| ENST00000538326.5:c.*720dup | ENSP00000437486.1:n.*720dup | |
| ENST00000539145.5:c.1016dup | ENSP00000444471.1:n.1016dup | |
| ENST00000541159.5:c.1637dup | ENSP00000438711.1:n.1637dup | |
| ENST00000542898.5:c.*371dup | ENSP00000444615.1:n.*371dup | |
| ENST00000570511.5:c.1500dup | ENSP00000458312.1:n.1500dup | |
| ENST00000572244.5:c.785dup | ENSP00000461186.1:n.785dup | |
| ENST00000574583.5:c.867dup | ENSP00000460269.1:n.867dup | |
| ENST00000576315.5:c.900dup | ENSP00000460551.1:n.900dup | |
| ENST00000621655.1:c.1632dup | ENSP00000481436.1:n.1632dup | |
| NM_000243.2:c.2095dup , LRG_190t1:c.2095dup | NP_000234.1:p.Tyr699LeufsTer? | |
| NM_001198536.1:c.*299dup | NP_001185465.1:n.*299dup | |
| XM_017023236.2:c.2092dup | XP_016878725.1:p.Tyr698LeufsTer? | |
| NM_000243.3:c.2095dup MANE Select | NP_000234.1:p.Tyr699LeufsTer? | |
| NM_001198536.2:c.*299dup | NP_001185465.2:n.*299dup |