Linked Data
dbSNP Id:
rs1724883240
gnomAD v2:
4-122607199-TAGCTCATCAGCTATCA-T
gnomAD v3:
4-121686044-TAGCTCATCAGCTATCA-T
gnomAD v4:
4-121686044-TAGCTCATCAGCTATCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121686045_121686060del , CM000666.2:g.121686045_121686060del | GRCh38 |
| NC_000004.11:g.122607200_122607215del , CM000666.1:g.122607200_122607215del | GRCh37 |
| NC_000004.10:g.122826650_122826665del | NCBI36 |
| NG_032042.1:g.15933_15948del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.94+228_94+243del MANE Select | ENSP00000296511.5:n.94+228_94+243del | |
| ENST00000296511.9:c.94+228_94+243del | ENSP00000296511.5:n.94+228_94+243del | |
| ENST00000501272.6:c.10-2583_10-2568del | ENSP00000424106.1:n.10-2583_10-2568del | |
| ENST00000506395.5:c.94+228_94+243del | ENSP00000421421.1:n.94+228_94+243del | |
| ENST00000509016.5:n.215+228_215+243del | ||
| ENST00000511552.5:n.480+228_480+243del | ||
| ENST00000513428.5:n.259+228_259+243del | ||
| ENST00000513523.1:n.262+228_262+243del | ||
| ENST00000513728.1:c.94+228_94+243del | ENSP00000427135.1:n.94+228_94+243del | |
| ENST00000515017.5:c.94+228_94+243del | ENSP00000424199.1:n.94+228_94+243del | |
| NM_001154.3:c.94+228_94+243del | NP_001145.1:n.94+228_94+243del | |
| XM_017008141.2:c.94+228_94+243del | XP_016863630.1:n.94+228_94+243del | |
| NM_001154.4:c.94+228_94+243del MANE Select | NP_001145.1:n.94+228_94+243del |