Linked Data
dbSNP Id:
rs1436266356
gnomAD v2:
10-104661605-TTTTTTTC-T
gnomAD v3:
10-102901848-TTTTTTTC-T
gnomAD v4:
10-102901848-TTTTTTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102901862_102901868del , CM000672.2:g.102901862_102901868del | GRCh38 |
| NC_000010.10:g.104661619_104661625del , CM000672.1:g.104661619_104661625del | GRCh37 |
| NC_000010.9:g.104651609_104651615del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369880.8:c.*1162_*1168del (AS3MT) MANE Select | ENSP00000358896.3:n.*1162_*1168del | |
| ENST00000299353.6:c.*2297_*2303del (BORCS7-ASMT) | ENSP00000299353.5:n.*2297_*2303del | |
| ENST00000369880.7:c.*1162_*1168del (AS3MT) | ENSP00000358896.3:n.*1162_*1168del | |
| ENST00000615257.1:c.*597_*603del (AS3MT) | ENSP00000479361.1:n.*597_*603del | |
| NM_020682.3:c.*1162_*1168del (AS3MT) | NP_065733.2:n.*1162_*1168del | |
| NR_037644.1:n.2695_2701del (BORCS7-ASMT) | ||
| XM_017017027.1:c.447-1345_447-1339del | XP_016872516.1:n.447-1345_447-1339del | |
| XR_001747577.1:n.169-1345_169-1339del | ||
| XR_001747578.1:n.345-1345_345-1339del | ||
| NM_020682.4:c.*1162_*1168del (AS3MT) MANE Select | NP_065733.2:n.*1162_*1168del | |
| NR_160733.1:n.169-1345_169-1339del |