Linked Data
dbSNP Id:
rs2073306274
gnomAD v3:
3-122119363-CCTATCATTGAAAT-C
gnomAD v4:
3-122119363-CCTATCATTGAAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122119367_122119379del , CM000665.2:g.122119367_122119379del | GRCh38 |
| NC_000003.11:g.121838214_121838226del , CM000665.1:g.121838214_121838226del | GRCh37 |
| NC_000003.10:g.123320904_123320916del | NCBI36 |
| NG_029928.1:g.69006_69018del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330540.7:c.894-71_894-59del MANE Select | ENSP00000332049.2:n.894-71_894-59del | |
| ENST00000264468.9:c.732-71_732-59del | ENSP00000264468.6:n.732-71_732-59del | |
| ENST00000330540.6:c.894-71_894-59del | ENSP00000332049.2:n.894-71_894-59del | |
| ENST00000393627.6:c.876-71_876-59del | ENSP00000377248.2:n.876-71_876-59del | |
| ENST00000469710.5:c.648-71_648-59del | ENSP00000418988.1:n.648-71_648-59del | |
| ENST00000478741.1:c.736-71_736-59del | ||
| ENST00000493101.5:c.558-71_558-59del | ENSP00000420230.1:n.558-71_558-59del | |
| NM_001206924.1:c.558-71_558-59del | NP_001193853.1:n.558-71_558-59del | |
| NM_001206925.1:c.648-71_648-59del | NP_001193854.1:n.648-71_648-59del | |
| NM_006889.4:c.876-71_876-59del | NP_008820.3:n.876-71_876-59del | |
| NM_175862.4:c.894-71_894-59del | NP_787058.4:n.894-71_894-59del | |
| NM_176892.1:c.732-71_732-59del | NP_795711.1:n.732-71_732-59del | |
| NM_175862.5:c.894-71_894-59del MANE Select | NP_787058.5:n.894-71_894-59del | |
| NM_001206924.2:c.558-71_558-59del | NP_001193853.2:n.558-71_558-59del | |
| NM_001206925.2:c.648-71_648-59del | NP_001193854.2:n.648-71_648-59del | |
| NM_006889.5:c.876-71_876-59del | NP_008820.4:n.876-71_876-59del | |
| NM_176892.2:c.732-71_732-59del | NP_795711.2:n.732-71_732-59del |