Linked Data
dbSNP Id:
rs1718808093
gnomAD v3:
4-73409256-CTTTGGAA-C
gnomAD v4:
4-73409256-CTTTGGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73409263_73409269del , CM000666.2:g.73409263_73409269del | GRCh38 |
| NC_000004.11:g.74274980_74274986del , CM000666.1:g.74274980_74274986del | GRCh37 |
| NC_000004.10:g.74493844_74493850del | NCBI36 |
| NG_009291.1:g.10009_10015del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.483-92_483-86del MANE Select | ENSP00000295897.4:n.483-92_483-86del | |
| ENST00000295897.8:c.483-92_483-86del | ENSP00000295897.4:n.483-92_483-86del | |
| ENST00000401494.7:c.138-92_138-86del | ENSP00000384695.3:n.138-92_138-86del | |
| ENST00000415165.6:c.138-2733_138-2727del | ENSP00000401820.2:n.138-2733_138-2727del | |
| ENST00000441319.5:c.489-92_489-86del | ENSP00000392541.1:n.489-92_489-86del | |
| ENST00000476441.6:c.80-92_80-86del | ENSP00000423727.1:n.80-92_80-86del | |
| ENST00000503124.5:c.33-92_33-86del | ENSP00000421027.1:n.33-92_33-86del | |
| ENST00000505649.5:n.169-92_169-86del | ||
| ENST00000509063.5:c.483-92_483-86del | ENSP00000422784.1:n.483-92_483-86del | |
| ENST00000514786.1:n.452-92_452-86del | ||
| ENST00000621085.4:c.483-92_483-86del | ENSP00000483421.1:n.483-92_483-86del | |
| ENST00000621628.4:c.486+187_486+193del | ENSP00000480485.1:n.486+187_486+193del | |
| NM_000477.5:c.483-92_483-86del | NP_000468.1:n.483-92_483-86del | |
| NM_000477.6:c.483-92_483-86del | NP_000468.1:n.483-92_483-86del | |
| NM_000477.7:c.483-92_483-86del MANE Select | NP_000468.1:n.483-92_483-86del |