Linked Data
dbSNP Id:
rs554640179
gnomAD v2:
1-200007543-CTA-C
gnomAD v3:
1-200038415-CTA-C
gnomAD v4:
1-200038415-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200038417_200038418del , CM000663.2:g.200038417_200038418del | GRCh38 |
| NC_000001.10:g.200007545_200007546del , CM000663.1:g.200007545_200007546del | GRCh37 |
| NC_000001.9:g.198274168_198274169del | NCBI36 |
| NG_050913.1:g.15816_15817del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367362.8:c.65-1241_65-1240del MANE Select | ENSP00000356331.3:n.65-1241_65-1240del | |
| ENST00000236914.7:c.65-5357_65-5356del | ENSP00000236914.3:n.65-5357_65-5356del | |
| ENST00000367362.7:c.65-1241_65-1240del | ENSP00000356331.3:n.65-1241_65-1240del | |
| ENST00000447034.1:c.30-284_30-283del | ||
| ENST00000474307.1:c.*419-5357_*419-5356del | ENSP00000436776.1:n.*419-5357_*419-5356del | |
| NM_003822.4:c.65-5357_65-5356del | NP_003813.1:n.65-5357_65-5356del | |
| NM_205860.2:c.65-1241_65-1240del | NP_995582.1:n.65-1241_65-1240del | |
| XM_011509380.1:c.-56-1241_-56-1240del | XP_011507682.1:n.-56-1241_-56-1240del | |
| XM_011509382.1:c.-14-5357_-14-5356del | XP_011507684.1:n.-14-5357_-14-5356del | |
| XM_011509381.3:c.-412_-411del | XP_011507683.1:n.-412_-411del | |
| NM_205860.3:c.65-1241_65-1240del MANE Select | NP_995582.1:n.65-1241_65-1240del | |
| NM_003822.5:c.65-5357_65-5356del | NP_003813.1:n.65-5357_65-5356del |