Linked Data
ClinVar Variation Id:
140744
ClinVar RCV Id:
RCV000128856
dbSNP Id:
rs587777573
gnomAD v2:
2-1653154-TGGACACCAGGCGCGGCATGGGAA-T
gnomAD v4:
2-1649382-TGGACACCAGGCGCGGCATGGGAA-T
PubMed:
PMID:24939590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1649385_1649407del , CM000664.2:g.1649385_1649407del | GRCh38 |
| NC_000002.11:g.1653157_1653179del , CM000664.1:g.1653157_1653179del | GRCh37 |
| NC_000002.10:g.1632164_1632186del | NCBI36 |
| NG_034221.1:g.100143_100165del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252804.9:c.2375_2397del MANE Select | ENSP00000252804.4:p.Leu792HisfsTer? | |
| ENST00000252804.8:c.2375_2397del | ENSP00000252804.4:p.Leu792HisfsTer? | |
| ENST00000465809.1:n.494_516del | ||
| ENST00000478155.5:n.2696+4223_2696+4245del | ||
| ENST00000493779.1:n.610_632del | ||
| NM_012293.2:c.2375_2397del | NP_036425.1:p.Leu792HisfsTer? | |
| XM_005264707.2:c.2303_2325del | XP_005264764.1:p.Leu768HisfsTer? | |
| XM_011510395.1:c.2186_2208del | XP_011508697.1:p.Leu729HisfsTer? | |
| XM_011510396.1:c.1826_1848del | XP_011508698.1:p.Leu609HisfsTer? | |
| XM_011510397.1:c.1826_1848del | XP_011508699.1:p.Leu609HisfsTer? | |
| XM_005264707.3:c.2303_2325del | XP_005264764.1:p.Leu768HisfsTer? | |
| NM_012293.3:c.2375_2397del MANE Select | NP_036425.1:p.Leu792HisfsTer? |