Linked Data
ClinVar Variation Id:
856881
ClinVar RCV Id:
RCV001062442
dbSNP Id:
rs1258134795
gnomAD v2:
17-7124936-TCAAAGGCATCCTGCTCTTTGGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221625_7221647del , CM000679.2:g.7221625_7221647del | GRCh38 |
| NC_000017.10:g.7124944_7124966del , CM000679.1:g.7124944_7124966del | GRCh37 |
| NC_000017.9:g.7065668_7065690del | NCBI36 |
| NG_007975.1:g.6792_6814del | |
| NG_008391.2:g.3411_3433del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.565_587del MANE Select | ENSP00000349297.5:p.Ile189ProfsTer? | |
| ENST00000322910.9:c.*520_*542del | ENSP00000325395.5:n.*520_*542del | |
| ENST00000350303.9:c.499_521del | ENSP00000344152.5:p.Ile167ProfsTer? | |
| ENST00000356839.9:c.565_587del | ENSP00000349297.5:p.Ile189ProfsTer? | |
| ENST00000543245.6:c.634_656del | ENSP00000438689.2:p.Ile212ProfsTer? | |
| ENST00000577191.5:n.642_664del | ||
| ENST00000577433.5:n.773_795del | ||
| ENST00000577857.5:n.381_403del | ||
| ENST00000579286.5:n.746_768del | ||
| ENST00000579886.2:c.403_425del | ENSP00000463246.1:p.Ile135ProfsTer? | |
| ENST00000580365.1:n.296_318del | ||
| ENST00000581378.5:c.283_305del | ||
| ENST00000581562.5:n.525-327_525-305del | ||
| ENST00000583312.5:c.565_587del | ENSP00000467920.1:p.Ile189ProfsTer? | |
| ENST00000583760.1:n.347_369del | ||
| NM_000018.3:c.565_587del | NP_000009.1:p.Ile189ProfsTer? | |
| NM_001033859.2:c.499_521del | NP_001029031.1:p.Ile167ProfsTer? | |
| NM_001270447.1:c.634_656del | NP_001257376.1:p.Ile212ProfsTer? | |
| NM_001270448.1:c.337_359del | NP_001257377.1:p.Ile113ProfsTer? | |
| XM_006721516.2:c.565_587del | XP_006721579.2:p.Ile189ProfsTer? | |
| XM_011523829.1:c.565_587del | XP_011522131.1:p.Ile189ProfsTer? | |
| XM_011523830.1:c.565_587del | XP_011522132.1:p.Ile189ProfsTer? | |
| XR_934021.1:n.672_694del | ||
| XR_934022.1:n.672_694del | ||
| XR_934023.1:n.672_694del | ||
| XM_006721516.3:c.565_587del | XP_006721579.2:p.Ile189ProfsTer? | |
| XM_011523829.2:c.565_587del | XP_011522131.1:p.Ile189ProfsTer? | |
| XM_011523830.2:c.565_587del | XP_011522132.1:p.Ile189ProfsTer? | |
| XM_024450741.1:c.565_587del | XP_024306509.1:p.Ile189ProfsTer? | |
| XR_934021.2:n.624_646del | ||
| XR_934022.2:n.624_646del | ||
| XR_934023.2:n.624_646del | ||
| NM_000018.4:c.565_587del MANE Select | NP_000009.1:p.Ile189ProfsTer? | |
| NM_001033859.3:c.499_521del | NP_001029031.1:p.Ile167ProfsTer? | |
| NM_001270447.2:c.634_656del | NP_001257376.1:p.Ile212ProfsTer? | |
| NM_001270448.2:c.337_359del | NP_001257377.1:p.Ile113ProfsTer? |