Linked Data
ClinVar Variation Id:
12996
dbSNP Id:
rs193922856
gnomAD v4:
19-38565341-TCTGGGCAGCAGTGACGCGCG-T
PubMed:
PMID:17538032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565347_38565366del , CM000681.2:g.38565347_38565366del | GRCh38 |
| NC_000019.9:g.39055987_39056006del , CM000681.1:g.39055987_39056006del | GRCh37 |
| NC_000019.8:g.43747827_43747846del | NCBI36 |
| NG_008866.1:g.136648_136667del , LRG_766:g.136648_136667del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688602.1:c.1423_1442del | ||
| ENST00000689936.1:c.1405_1424del | ||
| ENST00000359596.8:c.13013_13032del MANE Select | ENSP00000352608.2:p.Ala4338GlyfsTer? | |
| ENST00000355481.8:c.12998_13017del | ENSP00000347667.3:p.Ala4333GlyfsTer? | |
| ENST00000359596.7:c.13013_13032del | ENSP00000352608.2:p.Ala4338GlyfsTer? | |
| ENST00000360985.7:c.12995_13014del | ENSP00000354254.4:p.Ala4332GlyfsTer? | |
| NM_000540.2:c.13013_13032del , LRG_766t1:c.13013_13032del | NP_000531.2:p.Ala4338GlyfsTer? | |
| NM_001042723.1:c.12998_13017del | NP_001036188.1:p.Ala4333GlyfsTer? | |
| XM_006723317.1:c.12995_13014del | XP_006723380.1:p.Ala4332GlyfsTer? | |
| XM_006723319.1:c.12980_12999del | XP_006723382.1:p.Ala4327GlyfsTer? | |
| XM_011527204.1:c.13010_13029del | XP_011525506.1:p.Ala4337GlyfsTer? | |
| XM_011527205.1:c.13013_13032del | XP_011525507.1:p.Ala4338GlyfsTer? | |
| XM_006723317.2:c.12995_13014del | XP_006723380.1:p.Ala4332GlyfsTer? | |
| XM_006723319.2:c.12980_12999del | XP_006723382.1:p.Ala4327GlyfsTer? | |
| XM_011527205.2:c.13013_13032del | XP_011525507.1:p.Ala4338GlyfsTer? | |
| NM_000540.3:c.13013_13032del MANE Select | NP_000531.2:p.Ala4338GlyfsTer? | |
| NM_001042723.2:c.12998_13017del | NP_001036188.1:p.Ala4333GlyfsTer? |