Linked Data
dbSNP Id:
rs1433224692
gnomAD v2:
1-40557940-CAT-C
gnomAD v3:
1-40092268-CAT-C
gnomAD v4:
1-40092268-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092269_40092270del , CM000663.2:g.40092269_40092270del | GRCh38 |
| NC_000001.10:g.40557941_40557942del , CM000663.1:g.40557941_40557942del | GRCh37 |
| NC_000001.9:g.40330528_40330529del | NCBI36 |
| NG_009192.1:g.10201_10202del , LRG_690:g.10201_10202del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*71-98_*71-97del | ENSP00000361865.5:n.*71-98_*71-97del | |
| ENST00000433473.8:c.232-98_232-97del | ENSP00000394863.4:n.232-98_232-97del | |
| ENST00000439754.6:c.235-98_235-97del | ENSP00000403207.2:n.235-98_235-97del | |
| ENST00000449045.7:c.125-2758_125-2757del | ENSP00000392293.2:n.125-2758_125-2757del | |
| ENST00000526547.2:c.515-98_515-97del | ||
| ENST00000527311.7:c.234+128_234+129del | ENSP00000436695.3:n.234+128_234+129del | |
| ENST00000530704.6:c.235-98_235-97del | ENSP00000431655.1:n.235-98_235-97del | |
| ENST00000641083.1:c.213-98_213-97del | ||
| ENST00000641236.1:n.374_375del | ||
| ENST00000641319.1:c.235-98_235-97del | ENSP00000493128.1:n.235-98_235-97del | |
| ENST00000641471.1:c.322-98_322-97del | ENSP00000493146.1:n.322-98_322-97del | |
| ENST00000641548.1:c.*87-98_*87-97del | ENSP00000492984.1:n.*87-98_*87-97del | |
| ENST00000641691.1:c.*87-98_*87-97del | ENSP00000492910.1:n.*87-98_*87-97del | |
| ENST00000641924.1:c.124+4845_124+4846del | ENSP00000493063.1:n.124+4845_124+4846del | |
| ENST00000642050.2:c.235-98_235-97del MANE Select | ENSP00000493153.1:n.235-98_235-97del | |
| ENST00000372779.8:c.322-98_322-97del | ENSP00000361865.4:n.322-98_322-97del | |
| ENST00000433473.7:c.235-98_235-97del | ENSP00000394863.3:n.235-98_235-97del | |
| ENST00000449045.6:c.125-2758_125-2757del | ENSP00000392293.2:n.125-2758_125-2757del | |
| ENST00000526547.1:c.85-98_85-97del | ENSP00000436481.1:n.85-98_85-97del | |
| ENST00000527311.6:c.125-213_125-212del | ENSP00000436695.2:n.125-213_125-212del | |
| ENST00000529905.5:c.235-98_235-97del | ENSP00000432053.1:n.235-98_235-97del | |
| ENST00000530704.5:c.235-98_235-97del | ENSP00000431655.1:n.235-98_235-97del | |
| NM_000310.3:c.235-98_235-97del , LRG_690t1:c.235-98_235-97del | NP_000301.1:n.235-98_235-97del | |
| NM_001142604.1:c.125-2758_125-2757del | NP_001136076.1:n.125-2758_125-2757del | |
| XM_005271008.1:c.235-98_235-97del | XP_005271065.1:n.235-98_235-97del | |
| NM_001363695.1:c.235-98_235-97del | NP_001350624.1:n.235-98_235-97del | |
| NM_000310.4:c.235-98_235-97del MANE Select | NP_000301.1:n.235-98_235-97del | |
| NM_001142604.2:c.125-2758_125-2757del | NP_001136076.1:n.125-2758_125-2757del | |
| NM_001363695.2:c.235-98_235-97del | NP_001350624.1:n.235-98_235-97del |