Linked Data
dbSNP Id:
rs796052080
ExAC:
9:37424827 TCC / T
gnomAD v2:
9-37424827-TCC-T
gnomAD v3:
9-37424830-TCC-T
gnomAD v4:
9-37424830-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37424832_37424833del , CM000671.2:g.37424832_37424833del | GRCh38 |
| NC_000009.11:g.37424829_37424830del , CM000671.1:g.37424829_37424830del | GRCh37 |
| NC_000009.10:g.37414829_37414830del | NCBI36 |
| NG_008135.1:g.7123_7124del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.84-13_84-12del MANE Select | ENSP00000313432.6:n.84-13_84-12del | |
| ENST00000318158.10:c.84-13_84-12del | ENSP00000313432.6:n.84-13_84-12del | |
| ENST00000377824.8:n.121-13_121-12del | ||
| ENST00000460882.5:n.111-13_111-12del | ||
| ENST00000487399.5:n.93-13_93-12del | ||
| ENST00000491488.5:n.109+1999_109+2000del | ||
| ENST00000493368.5:n.141-13_141-12del | ||
| ENST00000607784.1:c.84-13_84-12del | ENSP00000475569.1:n.84-13_84-12del | |
| NM_012203.1:c.84-13_84-12del | NP_036335.1:n.84-13_84-12del | |
| XM_005251631.1:c.83+1999_83+2000del | XP_005251688.1:n.83+1999_83+2000del | |
| XM_011518073.1:c.-679-13_-679-12del | XP_011516375.1:n.-679-13_-679-12del | |
| XR_929374.1:n.169-13_169-12del | ||
| XM_017015320.2:c.84-13_84-12del | XP_016870809.1:n.84-13_84-12del | |
| XM_017015321.2:c.84-13_84-12del | XP_016870810.1:n.84-13_84-12del | |
| XM_017015323.2:c.-679-13_-679-12del | XP_016870812.1:n.-679-13_-679-12del | |
| XM_024447716.1:c.357-13_357-12del | XP_024303484.1:n.357-13_357-12del | |
| XM_024447717.1:c.357-13_357-12del | XP_024303485.1:n.357-13_357-12del | |
| XR_002956828.1:n.372-13_372-12del | ||
| XR_002956829.1:n.372-13_372-12del | ||
| XR_002956830.1:n.143-13_143-12del | ||
| XR_002956831.1:n.138+1999_138+2000del | ||
| XR_002956832.1:n.143-13_143-12del | ||
| NM_012203.2:c.84-13_84-12del MANE Select | NP_036335.1:n.84-13_84-12del |