Linked Data
ClinVar Variation Id:
242572
dbSNP Id:
rs180177320
ExAC:
9:37424833 TCCCC / T
gnomAD v2:
9-37424833-TCCCC-T
gnomAD v3:
9-37424836-TCCCC-T
gnomAD v4:
9-37424836-TCCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37424837_37424840del , CM000671.2:g.37424837_37424840del | GRCh38 |
| NC_000009.11:g.37424834_37424837del , CM000671.1:g.37424834_37424837del | GRCh37 |
| NC_000009.10:g.37414834_37414837del | NCBI36 |
| NG_008135.1:g.7128_7131del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.84-8_84-5del MANE Select | ENSP00000313432.6:n.84-8_84-5del | |
| ENST00000318158.10:c.84-8_84-5del | ENSP00000313432.6:n.84-8_84-5del | |
| ENST00000377824.8:n.121-8_121-5del | ||
| ENST00000460882.5:n.111-8_111-5del | ||
| ENST00000487399.5:n.93-8_93-5del | ||
| ENST00000491488.5:n.109+2004_109+2007del | ||
| ENST00000493368.5:n.141-8_141-5del | ||
| ENST00000607784.1:c.84-8_84-5del | ENSP00000475569.1:n.84-8_84-5del | |
| NM_012203.1:c.84-8_84-5del | NP_036335.1:n.84-8_84-5del | |
| XM_005251631.1:c.83+2004_83+2007del | XP_005251688.1:n.83+2004_83+2007del | |
| XM_011518073.1:c.-679-8_-679-5del | XP_011516375.1:n.-679-8_-679-5del | |
| XR_929374.1:n.169-8_169-5del | ||
| XM_017015320.2:c.84-8_84-5del | XP_016870809.1:n.84-8_84-5del | |
| XM_017015321.2:c.84-8_84-5del | XP_016870810.1:n.84-8_84-5del | |
| XM_017015323.2:c.-679-8_-679-5del | XP_016870812.1:n.-679-8_-679-5del | |
| XM_024447716.1:c.357-8_357-5del | XP_024303484.1:n.357-8_357-5del | |
| XM_024447717.1:c.357-8_357-5del | XP_024303485.1:n.357-8_357-5del | |
| XR_002956828.1:n.372-8_372-5del | ||
| XR_002956829.1:n.372-8_372-5del | ||
| XR_002956830.1:n.143-8_143-5del | ||
| XR_002956831.1:n.138+2004_138+2007del | ||
| XR_002956832.1:n.143-8_143-5del | ||
| NM_012203.2:c.84-8_84-5del MANE Select | NP_036335.1:n.84-8_84-5del |