Linked Data
ClinVar Variation Id:
440799
ClinVar RCV Id:
RCV000509035
dbSNP Id:
rs780082584
gnomAD v2:
4-146560584-GGGCCTGTTTAGCAGA-G
gnomAD v4:
4-145639432-GGGCCTGTTTAGCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145639437_145639451del , CM000666.2:g.145639437_145639451del | GRCh38 |
| NC_000004.11:g.146560589_146560603del , CM000666.1:g.146560589_146560603del | GRCh37 |
| NC_000004.10:g.146780039_146780053del | NCBI36 |
| NG_007536.1:g.25140_25154del | |
| NG_007536.2:g.45396_45410del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.298_312del | ENSP00000442284.3:p.Cys100_Ala104del | |
| ENST00000647947.1:c.298_312del | ENSP00000496781.1:p.Cys100_Ala104del | |
| ENST00000648388.1:c.298_312del | ENSP00000497046.1:p.Cys100_Ala104del | |
| ENST00000649156.2:c.298_312del MANE Select | ENSP00000497008.1:p.Cys100_Ala104del | |
| ENST00000649173.1:c.298_312del | ENSP00000497871.1:p.Cys100_Ala104del | |
| ENST00000649704.1:c.298_312del | ENSP00000497680.1:p.Cys100_Ala104del | |
| ENST00000679563.1:c.298_312del | ENSP00000506503.1:p.Cys100_Ala104del | |
| ENST00000679930.1:c.298_312del | ENSP00000506293.1:p.Cys100_Ala104del | |
| ENST00000281317.9:c.298_312del | ENSP00000281317.5:p.Cys100_Ala104del | |
| ENST00000506919.1:n.786_800del | ||
| ENST00000511969.4:c.298_312del | ENSP00000427422.1:p.Cys100_Ala104del | |
| ENST00000541599.4:c.298_312del | ENSP00000442284.2:p.Cys100_Ala104del | |
| NM_172250.2:c.298_312del | NP_758454.1:p.Cys100_Ala104del | |
| XM_011531684.1:c.298_312del | XP_011529986.1:p.Cys100_Ala104del | |
| XM_011531685.1:c.298_312del | XP_011529987.1:p.Cys100_Ala104del | |
| NM_172250.3:c.298_312del MANE Select | NP_758454.1:p.Cys100_Ala104del | |
| XM_011531684.3:c.298_312del | XP_011529986.1:p.Cys100_Ala104del | |
| XM_011531685.2:c.298_312del | XP_011529987.1:p.Cys100_Ala104del | |
| XM_011531686.2:c.-486_-472del | XP_011529988.1:n.-486_-472del | |
| NM_001375644.1:c.298_312del | NP_001362573.1:p.Cys100_Ala104del |