Linked Data
dbSNP Id:
rs1296208067
gnomAD v2:
2-215595112-AAG-A
gnomAD v3:
2-214730388-AAG-A
gnomAD v4:
2-214730388-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730389_214730390del , CM000664.2:g.214730389_214730390del | GRCh38 |
| NC_000002.11:g.215595113_215595114del , CM000664.1:g.215595113_215595114del | GRCh37 |
| NC_000002.10:g.215303358_215303359del | NCBI36 |
| NG_012047.2:g.84315_84316del | |
| NG_012047.3:g.84322_84323del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2001+21_2001+22del MANE Select | ENSP00000260947.4:n.2001+21_2001+22del | |
| ENST00000421162.2:c.648+21_648+22del | ENSP00000392245.2:n.648+21_648+22del | |
| ENST00000613192.2:c.*64+21_*64+22del | ENSP00000483275.2:n.*64+21_*64+22del | |
| ENST00000613374.5:c.591+21_591+22del | ENSP00000484464.1:n.591+21_591+22del | |
| ENST00000613706.5:c.1593+21_1593+22del | ENSP00000484976.2:n.1593+21_1593+22del | |
| ENST00000617164.5:c.1944+21_1944+22del | ENSP00000480470.1:n.1944+21_1944+22del | |
| ENST00000619009.5:c.462+21_462+22del | ENSP00000482293.1:n.462+21_462+22del | |
| ENST00000650978.1:c.3376+21_3376+22del | ||
| ENST00000260947.8:c.2001+21_2001+22del | ENSP00000260947.4:n.2001+21_2001+22del | |
| ENST00000432456.5:c.98+21_98+22del | ||
| ENST00000455743.5:c.*1621+21_*1621+22del | ENSP00000412186.1:n.*1621+21_*1621+22del | |
| ENST00000471590.5:n.336+21_336+22del | ||
| ENST00000613192.1:c.171+21_171+22del | ENSP00000483275.1:n.171+21_171+22del | |
| ENST00000613374.4:c.591+21_591+22del | ENSP00000484464.1:n.591+21_591+22del | |
| ENST00000613706.4:c.648+21_648+22del | ENSP00000484976.1:n.648+21_648+22del | |
| ENST00000617164.4:c.1944+21_1944+22del | ENSP00000480470.1:n.1944+21_1944+22del | |
| ENST00000619009.4:c.462+21_462+22del | ENSP00000482293.1:n.462+21_462+22del | |
| ENST00000620057.4:c.*667+21_*667+22del | ENSP00000481988.1:n.*667+21_*667+22del | |
| NM_000465.3:c.2001+21_2001+22del | NP_000456.2:n.2001+21_2001+22del | |
| NM_001282543.1:c.1944+21_1944+22del | NP_001269472.1:n.1944+21_1944+22del | |
| NM_001282545.1:c.648+21_648+22del | NP_001269474.1:n.648+21_648+22del | |
| NM_001282548.1:c.591+21_591+22del | NP_001269477.1:n.591+21_591+22del | |
| NM_001282549.1:c.462+21_462+22del | NP_001269478.1:n.462+21_462+22del | |
| NR_104212.1:n.1994+21_1994+22del | ||
| NR_104215.1:n.1937+21_1937+22del | ||
| NR_104216.1:n.1193+21_1193+22del | ||
| XM_011511567.1:c.1947+21_1947+22del | XP_011509869.1:n.1947+21_1947+22del | |
| XM_017004613.1:c.2100+21_2100+22del | XP_016860102.1:n.2100+21_2100+22del | |
| XR_002959322.1:n.2212_2213del | ||
| NM_000465.4:c.2001+21_2001+22del MANE Select | NP_000456.2:n.2001+21_2001+22del | |
| NM_001282543.2:c.1944+21_1944+22del | NP_001269472.1:n.1944+21_1944+22del | |
| NM_001282545.2:c.648+21_648+22del | NP_001269474.1:n.648+21_648+22del | |
| NM_001282548.2:c.591+21_591+22del | NP_001269477.1:n.591+21_591+22del | |
| NM_001282549.2:c.462+21_462+22del | NP_001269478.1:n.462+21_462+22del | |
| NR_104212.2:n.1966+21_1966+22del | ||
| NR_104215.2:n.1909+21_1909+22del | ||
| NR_104216.2:n.1165+21_1165+22del |