Linked Data
dbSNP Id:
rs1815199072
gnomAD v3:
7-87515511-GTCAGAAGATAAT-G
gnomAD v4:
7-87515511-GTCAGAAGATAAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87515513_87515524del , CM000669.2:g.87515513_87515524del | GRCh38 |
| NC_000007.13:g.87144829_87144840del , CM000669.1:g.87144829_87144840del | GRCh37 |
| NC_000007.12:g.86982765_86982776del | NCBI36 |
| NG_011513.1:g.202726_202737del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.3085-95_3085-84del | ENSP00000265724.3:n.3085-95_3085-84del | |
| ENST00000622132.5:c.3085-95_3085-84del MANE Select | ENSP00000478255.1:n.3085-95_3085-84del | |
| ENST00000265724.7:c.3085-95_3085-84del | ENSP00000265724.3:n.3085-95_3085-84del | |
| ENST00000475929.5:n.241-95_241-84del | ||
| ENST00000488737.6:n.727-95_727-84del | ||
| ENST00000496821.5:n.713-95_713-84del | ||
| ENST00000543898.5:c.2893-95_2893-84del | ENSP00000444095.1:n.2893-95_2893-84del | |
| ENST00000622132.4:c.3085-95_3085-84del | ENSP00000478255.1:n.3085-95_3085-84del | |
| NM_000927.4:c.3085-95_3085-84del | NP_000918.2:n.3085-95_3085-84del | |
| NM_001348944.1:c.3085-95_3085-84del | NP_001335873.1:n.3085-95_3085-84del | |
| NM_001348945.1:c.3295-95_3295-84del | NP_001335874.1:n.3295-95_3295-84del | |
| NM_001348946.1:c.3085-95_3085-84del | NP_001335875.1:n.3085-95_3085-84del | |
| NM_001348946.2:c.3085-95_3085-84del MANE Select | NP_001335875.1:n.3085-95_3085-84del | |
| NM_000927.5:c.3085-95_3085-84del | NP_000918.2:n.3085-95_3085-84del | |
| NM_001348944.2:c.3085-95_3085-84del | NP_001335873.1:n.3085-95_3085-84del | |
| NM_001348945.2:c.3295-95_3295-84del | NP_001335874.1:n.3295-95_3295-84del |