Linked Data
dbSNP Id:
rs931092409
gnomAD v2:
12-103288151-CAAAAG-C
gnomAD v3:
12-102894373-CAAAAG-C
gnomAD v4:
12-102894373-CAAAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894378_102894382del , CM000674.2:g.102894378_102894382del | GRCh38 |
| NC_000012.11:g.103288156_103288160del , CM000674.1:g.103288156_103288160del | GRCh37 |
| NC_000012.10:g.101812286_101812290del | NCBI36 |
| NG_008690.1:g.28225_28229del | |
| NG_008690.2:g.69033_69037del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.352+357_352+361del MANE Select | ENSP00000448059.1:n.352+357_352+361del | |
| ENST00000307000.7:c.337+357_337+361del | ENSP00000303500.2:n.337+357_337+361del | |
| ENST00000548928.1:n.274+357_274+361del | ||
| ENST00000549111.5:n.448+357_448+361del | ||
| ENST00000550978.6:c.336+357_336+361del | ||
| ENST00000551337.5:c.352+357_352+361del | ENSP00000447620.1:n.352+357_352+361del | |
| ENST00000551988.5:n.441+357_441+361del | ||
| ENST00000553106.5:c.352+357_352+361del | ENSP00000448059.1:n.352+357_352+361del | |
| NM_000277.1:c.352+357_352+361del | NP_000268.1:n.352+357_352+361del | |
| XM_011538422.1:c.352+357_352+361del | XP_011536724.1:n.352+357_352+361del | |
| NM_000277.2:c.352+357_352+361del | NP_000268.1:n.352+357_352+361del | |
| NM_001354304.1:c.352+357_352+361del | NP_001341233.1:n.352+357_352+361del | |
| XM_017019370.2:c.352+357_352+361del | XP_016874859.1:n.352+357_352+361del | |
| NM_000277.3:c.352+357_352+361del MANE Select | NP_000268.1:n.352+357_352+361del | |
| NM_001354304.2:c.352+357_352+361del | NP_001341233.1:n.352+357_352+361del |