Linked Data
dbSNP Id:
rs770922994
ExAC:
19:38990502 TCCCTGGC / T
gnomAD v2:
19-38990502-TCCCTGGC-T
gnomAD v4:
19-38499862-TCCCTGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38499870_38499876del , CM000681.2:g.38499870_38499876del | GRCh38 |
| NC_000019.9:g.38990510_38990516del , CM000681.1:g.38990510_38990516del | GRCh37 |
| NC_000019.8:g.43682350_43682356del | NCBI36 |
| NG_008866.1:g.71171_71177del , LRG_766:g.71171_71177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7215-38_7215-32del | ENSP00000471601.2:n.7215-38_7215-32del | |
| ENST00000359596.8:c.7215-38_7215-32del MANE Select | ENSP00000352608.2:n.7215-38_7215-32del | |
| ENST00000355481.8:c.7215-38_7215-32del | ENSP00000347667.3:n.7215-38_7215-32del | |
| ENST00000359596.7:c.7215-38_7215-32del | ENSP00000352608.2:n.7215-38_7215-32del | |
| ENST00000360985.7:c.7212-38_7212-32del | ENSP00000354254.4:n.7212-38_7212-32del | |
| ENST00000594335.5:c.667-38_667-32del | ||
| NM_000540.2:c.7215-38_7215-32del , LRG_766t1:c.7215-38_7215-32del | NP_000531.2:n.7215-38_7215-32del | |
| NM_001042723.1:c.7215-38_7215-32del | NP_001036188.1:n.7215-38_7215-32del | |
| XM_006723317.1:c.7215-38_7215-32del | XP_006723380.1:n.7215-38_7215-32del | |
| XM_006723319.1:c.7215-38_7215-32del | XP_006723382.1:n.7215-38_7215-32del | |
| XM_011527204.1:c.7212-38_7212-32del | XP_011525506.1:n.7212-38_7212-32del | |
| XM_011527205.1:c.7215-38_7215-32del | XP_011525507.1:n.7215-38_7215-32del | |
| XM_006723317.2:c.7215-38_7215-32del | XP_006723380.1:n.7215-38_7215-32del | |
| XM_006723319.2:c.7215-38_7215-32del | XP_006723382.1:n.7215-38_7215-32del | |
| XM_011527205.2:c.7215-38_7215-32del | XP_011525507.1:n.7215-38_7215-32del | |
| XR_001753735.1:n.7298-38_7298-32del | ||
| NM_000540.3:c.7215-38_7215-32del MANE Select | NP_000531.2:n.7215-38_7215-32del | |
| NM_001042723.2:c.7215-38_7215-32del | NP_001036188.1:n.7215-38_7215-32del |