Linked Data
dbSNP Id:
rs1406692854
gnomAD v3:
10-53806473-GTGTGCATGATA-G
gnomAD v4:
10-53806473-GTGTGCATGATA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806475_53806485del , CM000672.2:g.53806475_53806485del | GRCh38 |
| NC_000010.10:g.55566235_55566245del , CM000672.1:g.55566235_55566245del | GRCh37 |
| NC_000010.9:g.55236241_55236251del | NCBI36 |
| NG_009191.2:g.999808_999818del | |
| NG_009191.3:g.1827699_1827709del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.4177_4187del | ||
| ENST00000644397.2:c.*95_*105del MANE Select | ENSP00000495195.1:n.*95_*105del | |
| ENST00000373965.6:c.*95_*105del | ENSP00000363076.3:n.*95_*105del | |
| ENST00000414778.5:c.*95_*105del | ENSP00000410304.2:n.*95_*105del | |
| ENST00000495484.5:c.*95_*105del | ENSP00000480780.1:n.*95_*105del | |
| ENST00000614895.4:c.*95_*105del | ENSP00000478512.1:n.*95_*105del | |
| ENST00000616114.4:c.*95_*105del | ENSP00000483745.1:n.*95_*105del | |
| ENST00000621708.4:c.*95_*105del | ENSP00000484454.1:n.*95_*105del | |
| NM_001142771.1:c.*95_*105del | NP_001136243.1:n.*95_*105del | |
| NM_001142772.1:c.*95_*105del | NP_001136244.1:n.*95_*105del | |
| NM_001354420.1:c.*95_*105del | NP_001341349.1:n.*95_*105del | |
| NM_001354429.1:c.*95_*105del | NP_001341358.1:n.*95_*105del | |
| XR_001747192.2:n.11610_11620del | ||
| XR_001747193.2:n.11601_11611del | ||
| NM_001142771.2:c.*95_*105del | NP_001136243.1:n.*95_*105del | |
| NM_001142772.2:c.*95_*105del | NP_001136244.1:n.*95_*105del | |
| NM_001354420.2:c.*95_*105del | NP_001341349.1:n.*95_*105del | |
| NM_001354429.2:c.*95_*105del | NP_001341358.1:n.*95_*105del | |
| NM_001384140.1:c.*95_*105del MANE Select | NP_001371069.1:n.*95_*105del |