Linked Data
ClinVar Variation Id:
556914
ClinVar RCV Id:
RCV000672980
dbSNP Id:
rs1553957901
MyVariant Identifiers:
chr4:g.145639345del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145639345del , CM000666.2:g.145639345del | GRCh38 |
| NC_000004.11:g.146560497del , CM000666.1:g.146560497del | GRCh37 |
| NC_000004.10:g.146779947del | NCBI36 |
| NG_007536.1:g.25048del | |
| NG_007536.2:g.45304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.206del | ENSP00000442284.3:p.Thr69LysfsTer3 | |
| ENST00000647947.1:c.206del | ENSP00000496781.1:p.Thr69LysfsTer3 | |
| ENST00000648388.1:c.206del | ENSP00000497046.1:p.Thr69LysfsTer3 | |
| ENST00000649156.2:c.206del MANE Select | ENSP00000497008.1:p.Thr69LysfsTer3 | |
| ENST00000649173.1:c.206del | ENSP00000497871.1:p.Thr69LysfsTer3 | |
| ENST00000649704.1:c.206del | ENSP00000497680.1:p.Thr69LysfsTer3 | |
| ENST00000679563.1:c.206del | ENSP00000506503.1:p.Thr69LysfsTer3 | |
| ENST00000679930.1:c.206del | ENSP00000506293.1:p.Thr69LysfsTer3 | |
| ENST00000281317.9:c.206del | ENSP00000281317.5:p.Thr69LysfsTer3 | |
| ENST00000506919.1:n.694del | ||
| ENST00000511969.4:c.206del | ENSP00000427422.1:p.Thr69LysfsTer3 | |
| ENST00000541599.4:c.206del | ENSP00000442284.2:p.Thr69LysfsTer3 | |
| NM_172250.2:c.206del | NP_758454.1:p.Thr69LysfsTer3 | |
| XM_011531684.1:c.206del | XP_011529986.1:p.Thr69LysfsTer3 | |
| XM_011531685.1:c.206del | XP_011529987.1:p.Thr69LysfsTer3 | |
| NM_172250.3:c.206del MANE Select | NP_758454.1:p.Thr69LysfsTer3 | |
| XM_011531684.3:c.206del | XP_011529986.1:p.Thr69LysfsTer3 | |
| XM_011531685.2:c.206del | XP_011529987.1:p.Thr69LysfsTer3 | |
| XM_011531686.2:c.-578del | XP_011529988.1:n.-578del | |
| NM_001375644.1:c.206del | NP_001362573.1:p.Thr69LysfsTer3 |