Linked Data
dbSNP Id:
rs1876609801
gnomAD v3:
12-102877334-TAGGAAC-T
gnomAD v4:
12-102877334-TAGGAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877336_102877341del , CM000674.2:g.102877336_102877341del | GRCh38 |
| NC_000012.11:g.103271114_103271119del , CM000674.1:g.103271114_103271119del | GRCh37 |
| NC_000012.10:g.101795244_101795249del | NCBI36 |
| NG_008690.1:g.45263_45268del | |
| NG_008690.2:g.86071_86076del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.441+122_441+127del MANE Select | ENSP00000448059.1:n.441+122_441+127del | |
| ENST00000307000.7:c.426+122_426+127del | ENSP00000303500.2:n.426+122_426+127del | |
| ENST00000549111.5:n.537+122_537+127del | ||
| ENST00000550978.6:c.547_552del | ||
| ENST00000551988.5:n.530+122_530+127del | ||
| ENST00000553106.5:c.441+122_441+127del | ENSP00000448059.1:n.441+122_441+127del | |
| NM_000277.1:c.441+122_441+127del | NP_000268.1:n.441+122_441+127del | |
| XM_011538422.1:c.441+122_441+127del | XP_011536724.1:n.441+122_441+127del | |
| NM_000277.2:c.441+122_441+127del | NP_000268.1:n.441+122_441+127del | |
| NM_001354304.1:c.441+122_441+127del | NP_001341233.1:n.441+122_441+127del | |
| XM_017019370.2:c.441+122_441+127del | XP_016874859.1:n.441+122_441+127del | |
| NM_000277.3:c.441+122_441+127del MANE Select | NP_000268.1:n.441+122_441+127del | |
| NM_001354304.2:c.441+122_441+127del | NP_001341233.1:n.441+122_441+127del |