Linked Data
dbSNP Id:
rs572200939
gnomAD v2:
10-62181161-AAAGGTTGC-A
gnomAD v3:
10-60421403-AAAGGTTGC-A
gnomAD v4:
10-60421403-AAAGGTTGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60421406_60421413del , CM000672.2:g.60421406_60421413del | GRCh38 |
| NC_000010.10:g.62181164_62181171del , CM000672.1:g.62181164_62181171del | GRCh37 |
| NC_000010.9:g.61851170_61851177del | NCBI36 |
| NG_029917.1:g.317116_317123del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503366.6:c.64-141772_64-141765del | ENSP00000425236.1:n.64-141772_64-141765de... | |
| ENST00000373827.6:c.97-141772_97-141765del | ENSP00000362933.2:n.97-141772_97-141765de... | |
| ENST00000503366.5:c.64-141772_64-141765del | ENSP00000425236.1:n.64-141772_64-141765de... | |
| ENST00000622427.4:c.64-141772_64-141765del | ENSP00000483244.1:n.64-141772_64-141765de... | |
| NM_001204403.1:c.97-141772_97-141765del | NP_001191332.1:n.97-141772_97-141765del | |
| NM_001204404.1:c.64-141772_64-141765del | NP_001191333.1:n.64-141772_64-141765del | |
| XM_011539700.1:c.103-141772_103-141765del | XP_011538002.1:n.103-141772_103-141765del... | |
| XM_011539701.1:c.97-141772_97-141765del | XP_011538003.1:n.97-141772_97-141765del | |
| XM_011539702.1:c.58-141772_58-141765del | XP_011538004.1:n.58-141772_58-141765del | |
| XM_011539704.1:c.15+76573_15+76580del | XP_011538006.1:n.15+76573_15+76580del | |
| XM_017016114.1:c.64-141772_64-141765del | XP_016871603.1:n.64-141772_64-141765del | |
| XM_024447958.1:c.64-141772_64-141765del | XP_024303726.1:n.64-141772_64-141765del | |
| NM_001204403.2:c.97-141772_97-141765del | NP_001191332.1:n.97-141772_97-141765del | |
| NM_001204404.2:c.64-141772_64-141765del | NP_001191333.1:n.64-141772_64-141765del |