Linked Data
dbSNP Id:
rs5837121
gnomAD v2:
2-189923630-ATTTT-A
gnomAD v3:
2-189058904-ATTTT-A
gnomAD v4:
2-189058904-ATTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058913_189058916del , CM000664.2:g.189058913_189058916del | GRCh38 |
| NC_000002.11:g.189923639_189923642del , CM000664.1:g.189923639_189923642del | GRCh37 |
| NC_000002.10:g.189631884_189631887del | NCBI36 |
| NG_011799.1:g.125972_125975del | |
| NG_011799.2:g.125972_125975del | |
| NG_011799.3:g.171394_171397del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2086-15_2086-12del MANE Select | ENSP00000364000.3:n.2086-15_2086-12del | |
| ENST00000374866.7:c.2086-15_2086-12del | ENSP00000364000.3:n.2086-15_2086-12del | |
| ENST00000470524.2:n.192-15_192-12del | ||
| ENST00000618828.1:c.925-15_925-12del | ENSP00000482184.1:n.925-15_925-12del | |
| NM_000393.3:c.2086-15_2086-12del | NP_000384.2:n.2086-15_2086-12del | |
| XM_011510573.1:c.1948-15_1948-12del | XP_011508875.1:n.1948-15_1948-12del | |
| NM_000393.4:c.2086-15_2086-12del | NP_000384.2:n.2086-15_2086-12del | |
| XM_011510573.3:c.1948-15_1948-12del | XP_011508875.1:n.1948-15_1948-12del | |
| NM_000393.5:c.2086-15_2086-12del MANE Select | NP_000384.2:n.2086-15_2086-12del |