Linked Data
ClinVar Variation Id:
349881
dbSNP Id:
rs373672335
ExAC:
4:80957195 GA / G
gnomAD v2:
4-80957195-GA-G
gnomAD v3:
4-80036041-GA-G
gnomAD v4:
4-80036041-GA-G
MyVariant Identifiers:
chr4:g.80957198del (hg19)
chr4:g.80957196del (hg19)
chr4:g.80036044del (hg38)
chr4:g.80036042del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80036053del , CM000666.2:g.80036053del | GRCh38 |
| NC_000004.11:g.80957207del , CM000666.1:g.80957207del | GRCh37 |
| NC_000004.10:g.81176231del | NCBI36 |
| NG_015987.1:g.42282del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403729.7:c.637-10del MANE Select | ENSP00000385575.2:n.637-10del | |
| ENST00000679571.1:c.406-10del | ENSP00000506307.1:n.406-10del | |
| ENST00000680913.1:c.637-10del | ENSP00000505640.1:n.637-10del | |
| ENST00000681115.1:c.637-10del | ENSP00000505618.1:n.637-10del | |
| ENST00000681710.1:c.406-10del | ENSP00000505865.1:n.406-10del | |
| ENST00000307333.7:c.637-10del | ENSP00000306185.6:n.637-10del | |
| ENST00000346652.10:c.636+18230del | ENSP00000314883.6:n.636+18230del | |
| ENST00000403729.6:c.637-10del | ENSP00000385575.2:n.637-10del | |
| ENST00000404191.5:c.406-10del | ENSP00000384028.1:n.406-10del | |
| ENST00000449651.5:c.406-10del | ENSP00000413700.1:n.406-10del | |
| NM_001145794.1:c.637-10del | NP_001139266.1:n.637-10del | |
| NM_001286780.1:c.406-10del | NP_001273709.1:n.406-10del | |
| NM_001286781.1:c.406-10del | NP_001273710.1:n.406-10del | |
| NM_058172.5:c.637-10del | NP_477520.2:n.637-10del | |
| XM_011531587.1:c.406-10del | XP_011529889.1:n.406-10del | |
| XM_011531587.3:c.406-10del | XP_011529889.1:n.406-10del | |
| NM_058172.6:c.637-10del MANE Select | NP_477520.2:n.637-10del | |
| NM_001286780.2:c.406-10del | NP_001273709.1:n.406-10del | |
| NM_001286781.2:c.406-10del | NP_001273710.1:n.406-10del | |
| NM_001145794.2:c.637-10del | NP_001139266.1:n.637-10del |