Linked Data
dbSNP Id:
rs1567565386
gnomAD v2:
17-7126047-GGAGTAC-G
gnomAD v4:
17-7222728-GGAGTAC-G
MyVariant Identifiers:
chr17:g.7126048_7126053del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222730_7222735del , CM000679.2:g.7222730_7222735del | GRCh38 |
| NC_000017.10:g.7126049_7126054del , CM000679.1:g.7126049_7126054del | GRCh37 |
| NC_000017.9:g.7066773_7066778del | NCBI36 |
| NG_007975.1:g.7897_7902del | |
| NG_008391.2:g.2317_2322del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.942_947del MANE Select | ENSP00000349297.5:p.Val315_Arg316del | |
| ENST00000322910.9:c.*897_*902del | ENSP00000325395.5:n.*897_*902del | |
| ENST00000350303.9:c.876_881del | ENSP00000344152.5:p.Val293_Arg294del | |
| ENST00000356839.9:c.942_947del | ENSP00000349297.5:p.Val315_Arg316del | |
| ENST00000543245.6:c.1011_1016del | ENSP00000438689.2:p.Val338_Arg339del | |
| ENST00000578824.5:n.91_96del | ||
| ENST00000581378.5:c.660_665del | ||
| ENST00000582379.1:n.326_331del | ||
| NM_000018.3:c.942_947del | NP_000009.1:p.Val315_Arg316del | |
| NM_001033859.2:c.876_881del | NP_001029031.1:p.Val293_Arg294del | |
| NM_001270447.1:c.1011_1016del | NP_001257376.1:p.Val338_Arg339del | |
| NM_001270448.1:c.714_719del | NP_001257377.1:p.Val239_Arg240del | |
| XM_006721516.2:c.942_947del | XP_006721579.2:p.Val315_Arg316del | |
| XM_011523829.1:c.942_947del | XP_011522131.1:p.Val315_Arg316del | |
| XM_011523830.1:c.942_947del | XP_011522132.1:p.Val315_Arg316del | |
| XR_934021.1:n.1049_1054del | ||
| XR_934022.1:n.1049_1054del | ||
| XR_934023.1:n.1049_1054del | ||
| XM_006721516.3:c.942_947del | XP_006721579.2:p.Val315_Arg316del | |
| XM_011523829.2:c.942_947del | XP_011522131.1:p.Val315_Arg316del | |
| XM_011523830.2:c.942_947del | XP_011522132.1:p.Val315_Arg316del | |
| XM_024450741.1:c.942_947del | XP_024306509.1:p.Val315_Arg316del | |
| XR_934021.2:n.1001_1006del | ||
| XR_934022.2:n.1001_1006del | ||
| XR_934023.2:n.1001_1006del | ||
| NM_000018.4:c.942_947del MANE Select | NP_000009.1:p.Val315_Arg316del | |
| NM_001033859.3:c.876_881del | NP_001029031.1:p.Val293_Arg294del | |
| NM_001270447.2:c.1011_1016del | NP_001257376.1:p.Val338_Arg339del | |
| NM_001270448.2:c.714_719del | NP_001257377.1:p.Val239_Arg240del |