Linked Data
dbSNP Id:
rs764629809
ExAC:
9:37429658 TC / T
gnomAD v2:
9-37429658-TC-T
gnomAD v3:
9-37429661-TC-T
gnomAD v4:
9-37429661-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429663del , CM000671.2:g.37429663del | GRCh38 |
| NC_000009.11:g.37429660del , CM000671.1:g.37429660del | GRCh37 |
| NC_000009.10:g.37419660del | NCBI36 |
| NG_008135.1:g.11954del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.494-69del MANE Select | ENSP00000313432.6:n.494-69del | |
| ENST00000318158.10:c.494-69del | ENSP00000313432.6:n.494-69del | |
| ENST00000377824.8:n.531-69del | ||
| ENST00000460882.5:n.521-69del | ||
| ENST00000480596.5:n.1126del | ||
| ENST00000491488.5:n.199-69del | ||
| ENST00000494290.1:c.-5del | ENSP00000432021.1:n.-5del | |
| ENST00000497693.1:n.1958del | ||
| ENST00000607784.1:c.494-69del | ENSP00000475569.1:n.494-69del | |
| NM_012203.1:c.494-69del | NP_036335.1:n.494-69del | |
| XM_005251631.1:c.173-69del | XP_005251688.1:n.173-69del | |
| XM_011518073.1:c.92-69del | XP_011516375.1:n.92-69del | |
| XR_929374.1:n.939-69del | ||
| XM_017015320.2:c.494-69del | XP_016870809.1:n.494-69del | |
| XM_017015321.2:c.494-69del | XP_016870810.1:n.494-69del | |
| XM_017015323.2:c.92-69del | XP_016870812.1:n.92-69del | |
| XM_024447716.1:c.767-69del | XP_024303484.1:n.767-69del | |
| XM_024447717.1:c.767-69del | XP_024303485.1:n.767-69del | |
| XR_002956828.1:n.782-69del | ||
| XR_002956829.1:n.782-69del | ||
| XR_002956830.1:n.553-69del | ||
| XR_002956831.1:n.228-69del | ||
| XR_002956832.1:n.913-69del | ||
| NM_012203.2:c.494-69del MANE Select | NP_036335.1:n.494-69del |