Linked Data
dbSNP Id:
rs762627287
ExAC:
17:7125672 TCCTGGG / T
gnomAD v2:
17-7125672-TCCTGGG-T
gnomAD v4:
17-7222353-TCCTGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222355_7222360del , CM000679.2:g.7222355_7222360del | GRCh38 |
| NC_000017.10:g.7125674_7125679del , CM000679.1:g.7125674_7125679del | GRCh37 |
| NC_000017.9:g.7066398_7066403del | NCBI36 |
| NG_007975.1:g.7522_7527del | |
| NG_008391.2:g.2692_2697del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.878+53_878+58del MANE Select | ENSP00000349297.5:n.878+53_878+58del | |
| ENST00000322910.9:c.*833+53_*833+58del | ENSP00000325395.5:n.*833+53_*833+58del | |
| ENST00000350303.9:c.812+53_812+58del | ENSP00000344152.5:n.812+53_812+58del | |
| ENST00000356839.9:c.878+53_878+58del | ENSP00000349297.5:n.878+53_878+58del | |
| ENST00000543245.6:c.947+53_947+58del | ENSP00000438689.2:n.947+53_947+58del | |
| ENST00000577191.5:n.1103_1108del | ||
| ENST00000581378.5:c.596+53_596+58del | ||
| ENST00000582379.1:n.262+53_262+58del | ||
| NM_000018.3:c.878+53_878+58del | NP_000009.1:n.878+53_878+58del | |
| NM_001033859.2:c.812+53_812+58del | NP_001029031.1:n.812+53_812+58del | |
| NM_001270447.1:c.947+53_947+58del | NP_001257376.1:n.947+53_947+58del | |
| NM_001270448.1:c.650+53_650+58del | NP_001257377.1:n.650+53_650+58del | |
| XM_006721516.2:c.878+53_878+58del | XP_006721579.2:n.878+53_878+58del | |
| XM_011523829.1:c.878+53_878+58del | XP_011522131.1:n.878+53_878+58del | |
| XM_011523830.1:c.878+53_878+58del | XP_011522132.1:n.878+53_878+58del | |
| XR_934021.1:n.985+53_985+58del | ||
| XR_934022.1:n.985+53_985+58del | ||
| XR_934023.1:n.985+53_985+58del | ||
| XM_006721516.3:c.878+53_878+58del | XP_006721579.2:n.878+53_878+58del | |
| XM_011523829.2:c.878+53_878+58del | XP_011522131.1:n.878+53_878+58del | |
| XM_011523830.2:c.878+53_878+58del | XP_011522132.1:n.878+53_878+58del | |
| XM_024450741.1:c.878+53_878+58del | XP_024306509.1:n.878+53_878+58del | |
| XR_934021.2:n.937+53_937+58del | ||
| XR_934022.2:n.937+53_937+58del | ||
| XR_934023.2:n.937+53_937+58del | ||
| NM_000018.4:c.878+53_878+58del MANE Select | NP_000009.1:n.878+53_878+58del | |
| NM_001033859.3:c.812+53_812+58del | NP_001029031.1:n.812+53_812+58del | |
| NM_001270447.2:c.947+53_947+58del | NP_001257376.1:n.947+53_947+58del | |
| NM_001270448.2:c.650+53_650+58del | NP_001257377.1:n.650+53_650+58del |