Linked Data
dbSNP Id:
rs1461183099
gnomAD v2:
10-71245502-GGTGTACACAGGGGCCC-G
gnomAD v3:
10-69485746-GGTGTACACAGGGGCCC-G
gnomAD v4:
10-69485746-GGTGTACACAGGGGCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69485747_69485762del , CM000672.2:g.69485747_69485762del | GRCh38 |
| NC_000010.10:g.71245503_71245518del , CM000672.1:g.71245503_71245518del | GRCh37 |
| NC_000010.9:g.70915509_70915524del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373290.7:c.357+532_357+547del MANE Select | ENSP00000362387.2:n.357+532_357+547del | |
| ENST00000373290.6:c.357+532_357+547del | ENSP00000362387.2:n.357+532_357+547del | |
| ENST00000452130.1:c.84+532_84+547del | ENSP00000404528.1:n.84+532_84+547del | |
| ENST00000475069.5:n.127+532_127+547del | ||
| NM_012339.3:c.357+532_357+547del | NP_036471.1:n.357+532_357+547del | |
| XM_005269667.3:c.97-9847_97-9832del | XP_005269724.1:n.97-9847_97-9832del | |
| XM_006717738.2:c.285+532_285+547del | XP_006717801.1:n.285+532_285+547del | |
| XR_945642.1:n.487+532_487+547del | ||
| NM_001351263.1:c.97-9847_97-9832del | NP_001338192.1:n.97-9847_97-9832del | |
| NM_012339.4:c.357+532_357+547del | NP_036471.1:n.357+532_357+547del | |
| NR_147091.1:n.485+532_485+547del | ||
| XM_017016010.1:c.357+532_357+547del | XP_016871499.1:n.357+532_357+547del | |
| XR_001747072.1:n.488+532_488+547del | ||
| XR_001747073.1:n.488+532_488+547del | ||
| XR_001747074.1:n.485+532_485+547del | ||
| NM_012339.5:c.357+532_357+547del MANE Select | NP_036471.1:n.357+532_357+547del | |
| NM_001351263.2:c.97-9847_97-9832del | NP_001338192.1:n.97-9847_97-9832del | |
| NR_147091.2:n.487+532_487+547del |