Linked Data
ClinVar Variation Id:
225409
ClinVar RCV Id:
RCV000490460
dbSNP Id:
rs773149360
ExAC:
17:44060788 AG / A
gnomAD v2:
17-44060788-AG-A
gnomAD v3:
17-45983422-AG-A
gnomAD v4:
17-45983422-AG-A
MyVariant Identifiers:
chr17:g.44060793del (hg19)
chr17:g.44060789del (hg19)
chr17:g.45983427del (hg38)
chr17:g.45983423del (hg38)
PubMed:
PMID:12325083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45983427del , CM000679.2:g.45983427del | GRCh38 |
| NC_000017.10:g.44060793del , CM000679.1:g.44060793del | GRCh37 |
| NC_000017.9:g.41416630del | NCBI36 |
| NG_007398.1:g.94007del | |
| NG_007398.2:g.93965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.287-3613del | ENSP00000413056.2:n.287-3613del | |
| ENST00000703922.1:c.287-3613del | ENSP00000515557.1:n.287-3613del | |
| ENST00000703923.1:c.200-3613del | ENSP00000515558.1:n.200-3613del | |
| ENST00000703924.1:c.287-3613del | ENSP00000515559.1:n.287-3613del | |
| ENST00000703975.1:n.331-3613del | ||
| ENST00000703976.1:n.399-3613del | ||
| ENST00000703977.1:n.241-3613del | ||
| ENST00000703978.1:c.374-3613del | ENSP00000515600.1:n.374-3613del | |
| ENST00000703979.1:n.238-3613del | ||
| ENST00000262410.10:c.848del MANE Select | ENSP00000262410.6:p.Gly283AlafsTer? | |
| ENST00000344290.10:c.848del | ENSP00000340820.6:p.Gly283AlafsTer? | |
| ENST00000351559.10:c.374-3613del | ENSP00000303214.7:n.374-3613del | |
| ENST00000535772.6:c.287-3613del | ENSP00000443028.2:n.287-3613del | |
| ENST00000680542.1:c.287-3613del | ENSP00000505258.1:n.287-3613del | |
| ENST00000680674.1:c.200-3613del | ENSP00000505478.1:n.200-3613del | |
| ENST00000262410.9:c.623del | ENSP00000262410.5:p.Gly208AlafsTer? | |
| ENST00000334239.12:c.200-3613del | ENSP00000334886.8:n.200-3613del | |
| ENST00000340799.9:c.287-3613del | ENSP00000340438.5:n.287-3613del | |
| ENST00000344290.9:c.623del | ENSP00000340820.5:p.Gly208AlafsTer? | |
| ENST00000351559.9:c.374-3613del | ENSP00000303214.7:n.374-3613del | |
| ENST00000415613.6:c.623del | ENSP00000410838.2:p.Gly208AlafsTer? | |
| ENST00000420682.6:c.287-3613del | ENSP00000413056.2:n.287-3613del | |
| ENST00000431008.7:c.374-3613del | ENSP00000389250.3:n.374-3613del | |
| ENST00000446361.7:c.200-3613del | ENSP00000408975.3:n.200-3613del | |
| ENST00000535772.5:c.374-3613del | ENSP00000443028.1:n.374-3613del | |
| ENST00000570299.5:n.328-3613del | ||
| ENST00000571987.5:c.623del | ENSP00000458742.1:p.Gly208AlafsTer? | |
| ENST00000574436.5:c.374-3613del | ENSP00000460965.1:n.374-3613del | |
| ENST00000576238.1:n.562del | ||
| ENST00000576518.1:n.5659-3613del | ||
| NM_001123066.3:c.623del | NP_001116538.2:p.Gly208AlafsTer? | |
| NM_001123067.3:c.287-3613del | NP_001116539.1:n.287-3613del | |
| NM_001203251.1:c.287-3613del | NP_001190180.1:n.287-3613del | |
| NM_001203252.1:c.374-3613del | NP_001190181.1:n.374-3613del | |
| NM_005910.5:c.374-3613del | NP_005901.2:n.374-3613del | |
| NM_016834.4:c.200-3613del | NP_058518.1:n.200-3613del | |
| NM_016835.4:c.623del | NP_058519.3:p.Gly208AlafsTer? | |
| NM_016841.4:c.200-3613del | NP_058525.1:n.200-3613del | |
| XM_005257362.3:c.935del | XP_005257419.1:p.Gly312AlafsTer? | |
| XM_005257364.3:c.848del | XP_005257421.1:p.Gly283AlafsTer? | |
| XM_005257365.3:c.935del | XP_005257422.1:p.Gly312AlafsTer? | |
| XM_005257366.2:c.761del | XP_005257423.1:p.Gly254AlafsTer? | |
| XM_005257367.3:c.935del | XP_005257424.1:p.Gly312AlafsTer? | |
| XM_005257368.3:c.935del | XP_005257425.1:p.Gly312AlafsTer? | |
| XM_005257369.3:c.374-3613del | XP_005257426.1:n.374-3613del | |
| XM_005257370.3:c.287-3613del | XP_005257427.1:n.287-3613del | |
| XM_005257371.3:c.200-3613del | XP_005257428.1:n.200-3613del | |
| XM_005257362.4:c.935del | XP_005257419.1:p.Gly312AlafsTer? | |
| XM_005257364.4:c.848del | XP_005257421.1:p.Gly283AlafsTer? | |
| XM_005257365.4:c.935del | XP_005257422.1:p.Gly312AlafsTer? | |
| XM_005257366.3:c.761del | XP_005257423.1:p.Gly254AlafsTer? | |
| XM_005257367.4:c.935del | XP_005257424.1:p.Gly312AlafsTer? | |
| XM_005257368.4:c.935del | XP_005257425.1:p.Gly312AlafsTer? | |
| XM_005257369.4:c.374-3613del | XP_005257426.1:n.374-3613del | |
| XM_005257370.4:c.287-3613del | XP_005257427.1:n.287-3613del | |
| XM_005257371.4:c.200-3613del | XP_005257428.1:n.200-3613del | |
| NM_001203251.2:c.287-3613del | NP_001190180.1:n.287-3613del | |
| NM_001377265.1:c.848del MANE Select | NP_001364194.1:p.Gly283AlafsTer? | |
| NM_001377266.1:c.848del | NP_001364195.1:p.Gly283AlafsTer? | |
| NM_001377267.1:c.287-3613del | NP_001364196.1:n.287-3613del | |
| NM_001377268.1:c.200-3613del | NP_001364197.1:n.200-3613del | |
| NM_016834.5:c.200-3613del | NP_058518.1:n.200-3613del | |
| NM_016841.5:c.200-3613del | NP_058525.1:n.200-3613del | |
| NR_165166.1:n.437-3613del | ||
| NM_001123066.4:c.623del | NP_001116538.2:p.Gly208AlafsTer? | |
| NM_001123067.4:c.287-3613del | NP_001116539.1:n.287-3613del | |
| NM_001203252.2:c.374-3613del | NP_001190181.1:n.374-3613del | |
| NM_005910.6:c.374-3613del | NP_005901.2:n.374-3613del | |
| NM_016835.5:c.623del | NP_058519.3:p.Gly208AlafsTer? |