Linked Data
ClinVar Variation Id:
234354
ClinVar RCV Id:
RCV000223609
dbSNP Id:
rs876660992
gnomAD v2:
16-3304625-T-TCGGGCTGGCTGCACCG
gnomAD v3:
16-3254625-T-TCGGGCTGGCTGCACCG
gnomAD v4:
16-3254625-T-TCGGGCTGGCTGCACCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3254627_3254642dup , CM000678.2:g.3254627_3254642dup | GRCh38 |
| NC_000016.9:g.3304627_3304642dup , CM000678.1:g.3304627_3304642dup | GRCh37 |
| NC_000016.8:g.3244628_3244643dup | NCBI36 |
| NG_007871.1:g.6987_7002dup , LRG_190:g.6987_7002dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219596.6:c.427_442dup MANE Select | ENSP00000219596.1:p.Glu148AlafsTer? | |
| ENST00000219596.5:c.427_442dup | ENSP00000219596.1:p.Glu148AlafsTer? | |
| ENST00000339854.8:c.277+1670_277+1685dup | ENSP00000339639.4:n.277+1670_277+1685dup | |
| ENST00000536379.5:c.277+1670_277+1685dup | ENSP00000445079.1:n.277+1670_277+1685dup | |
| ENST00000536980.5:c.277+1670_277+1685dup | ENSP00000444178.1:n.277+1670_277+1685dup | |
| ENST00000537682.5:c.427_442dup | ENSP00000438611.1:p.Glu148AlafsTer? | |
| ENST00000538326.5:c.427_442dup | ENSP00000437486.1:p.Glu148AlafsTer? | |
| ENST00000539145.5:c.277+1670_277+1685dup | ENSP00000444471.1:n.277+1670_277+1685dup | |
| ENST00000541159.5:c.277+1670_277+1685dup | ENSP00000438711.1:n.277+1670_277+1685dup | |
| ENST00000542898.5:c.427_442dup | ENSP00000444615.1:p.Glu148AlafsTer? | |
| ENST00000570511.5:c.427_442dup | ENSP00000458312.1:p.Glu148AlafsTer? | |
| ENST00000572244.5:c.277+1670_277+1685dup | ENSP00000461186.1:n.277+1670_277+1685dup | |
| ENST00000574583.5:c.277+1670_277+1685dup | ENSP00000460269.1:n.277+1670_277+1685dup | |
| ENST00000576315.5:c.277+1670_277+1685dup | ENSP00000460551.1:n.277+1670_277+1685dup | |
| ENST00000621655.1:c.277+1670_277+1685dup | ENSP00000481436.1:n.277+1670_277+1685dup | |
| NM_000243.2:c.427_442dup , LRG_190t1:c.427_442dup | NP_000234.1:p.Glu148AlafsTer? | |
| NM_001198536.1:c.277+1670_277+1685dup | NP_001185465.1:n.277+1670_277+1685dup | |
| XM_017023236.2:c.427_442dup | XP_016878725.1:p.Glu148AlafsTer? | |
| XR_001751903.1:n.616_631dup | ||
| NM_000243.3:c.427_442dup MANE Select | NP_000234.1:p.Glu148AlafsTer? | |
| NM_001198536.2:c.277+1670_277+1685dup | NP_001185465.2:n.277+1670_277+1685dup |