Linked Data
dbSNP Id:
rs1726234160
gnomAD v3:
4-122851636-G-GGGCTAGAATTGATTTCTT
gnomAD v4:
4-122851636-G-GGGCTAGAATTGATTTCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122851637_122851654dup , CM000666.2:g.122851637_122851654dup | GRCh38 |
| NC_000004.11:g.123772792_123772809dup , CM000666.1:g.123772792_123772809dup | GRCh37 |
| NC_000004.10:g.123992242_123992259dup | NCBI36 |
| NG_029067.1:g.29930_29947dup | |
| NG_029067.2:g.29930_29947dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264498.9:c.577+24285_577+24302dup | ENSP00000264498.4:n.577+24285_577+24302dup | |
| ENST00000264498.8:c.577+24285_577+24302dup | ENSP00000264498.4:n.577+24285_577+24302dup | |
| ENST00000644866.2:c.178+24285_178+24302dup MANE Select | ENSP00000494222.1:n.178+24285_178+24302dup | |
| ENST00000264498.7:c.577+24285_577+24302dup | ENSP00000264498.3:n.577+24285_577+24302dup | |
| ENST00000608478.1:c.178+24285_178+24302dup | ENSP00000477134.1:n.178+24285_178+24302dup | |
| ENST00000614010.4:c.577+24285_577+24302dup | ENSP00000478620.1:n.577+24285_577+24302dup | |
| NM_002006.4:c.577+24285_577+24302dup | NP_001997.5:n.577+24285_577+24302dup | |
| NM_001361665.1:c.178+24285_178+24302dup | NP_001348594.1:n.178+24285_178+24302dup | |
| NM_002006.5:c.577+24285_577+24302dup | NP_001997.5:n.577+24285_577+24302dup | |
| NM_001361665.2:c.178+24285_178+24302dup MANE Select | NP_001348594.1:n.178+24285_178+24302dup | |
| NM_002006.6:c.577+24285_577+24302dup | NP_001997.5:n.577+24285_577+24302dup |