Linked Data
ClinVar Variation Id:
553469
ClinVar RCV Id:
RCV000668932
dbSNP Id:
rs1243273371
gnomAD v2:
9-37428528-TCACGCAGAG-T
gnomAD v3:
9-37428531-TCACGCAGAG-T
gnomAD v4:
9-37428531-TCACGCAGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37428535_37428543del , CM000671.2:g.37428535_37428543del | GRCh38 |
| NC_000009.11:g.37428532_37428540del , CM000671.1:g.37428532_37428540del | GRCh37 |
| NC_000009.10:g.37418532_37418540del | NCBI36 |
| NG_008135.1:g.10826_10834del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.456_464del MANE Select | ENSP00000313432.6:p.Gln153_Thr155del | |
| ENST00000318158.10:c.456_464del | ENSP00000313432.6:p.Gln153_Thr155del | |
| ENST00000377824.8:n.493_501del | ||
| ENST00000460882.5:n.483_491del | ||
| ENST00000491488.5:n.161_169del | ||
| ENST00000493368.5:n.513_521del | ||
| ENST00000497693.1:n.830_838del | ||
| ENST00000607784.1:c.456_464del | ENSP00000475569.1:p.Gln153_Thr155del | |
| NM_012203.1:c.456_464del | NP_036335.1:p.Gln153_Thr155del | |
| XM_005251631.1:c.135_143del | XP_005251688.1:p.Gln46_Thr48del | |
| XM_011518073.1:c.-307_-299del | XP_011516375.1:n.-307_-299del | |
| XR_929374.1:n.541_549del | ||
| XM_017015320.2:c.456_464del | XP_016870809.1:p.Gln153_Thr155del | |
| XM_017015321.2:c.456_464del | XP_016870810.1:p.Gln153_Thr155del | |
| XM_017015323.2:c.-307_-299del | XP_016870812.1:n.-307_-299del | |
| XM_024447716.1:c.729_737del | XP_024303484.1:p.Gln244_Thr246del | |
| XM_024447717.1:c.729_737del | XP_024303485.1:p.Gln244_Thr246del | |
| XR_002956828.1:n.744_752del | ||
| XR_002956829.1:n.744_752del | ||
| XR_002956830.1:n.515_523del | ||
| XR_002956831.1:n.190_198del | ||
| XR_002956832.1:n.515_523del | ||
| NM_012203.2:c.456_464del MANE Select | NP_036335.1:p.Gln153_Thr155del |