Linked Data
ClinVar Variation Id:
193126
ClinVar RCV Id:
RCV000173172
dbSNP Id:
rs767123748
ExAC:
7:128049883 G / GCCGGGCT
gnomAD v2:
7-128049883-G-GCCGGGCT
gnomAD v3:
7-128409829-G-GCCGGGCT
gnomAD v4:
7-128409829-G-GCCGGGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128409841_128409847dup , CM000669.2:g.128409841_128409847dup | GRCh38 |
| NC_000007.13:g.128049895_128049901dup , CM000669.1:g.128049895_128049901dup | GRCh37 |
| NC_000007.12:g.127837131_127837137dup | NCBI36 |
| NG_009194.1:g.5147_5153dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.66_72dup | ENSP00000265385.8:p.Gln25SerfsTer? | |
| ENST00000338791.11:c.66_72dup MANE Select | ENSP00000345096.6:p.Gln25SerfsTer29 | |
| ENST00000338791.10:c.66_72dup | ENSP00000345096.6:p.Gln25SerfsTer29 | |
| ENST00000348127.10:c.66_72dup | ENSP00000265385.8:p.Gln25SerfsTer? | |
| ENST00000354269.9:c.66_72dup | ENSP00000346219.5:p.Gln25SerfsTer? | |
| ENST00000419067.6:c.66_72dup | ENSP00000399400.2:p.Gln25SerfsTer29 | |
| ENST00000473463.1:c.66_72dup | ENSP00000420469.1:p.Gln25SerfsTer? | |
| ENST00000489263.1:c.66_72dup | ENSP00000418592.1:p.Gln25SerfsTer? | |
| ENST00000491376.5:n.147_153dup | ||
| ENST00000497868.5:c.66_72dup | ENSP00000419609.1:p.Gln25SerfsTer? | |
| ENST00000626419.2:c.-190_-184dup | ENSP00000486056.1:n.-190_-184dup | |
| NM_000883.3:c.66_72dup | NP_000874.2:p.Gln25SerfsTer29 | |
| NM_001102605.1:c.66_72dup | NP_001096075.1:p.Gln25SerfsTer? | |
| NM_001142576.1:c.66_72dup | NP_001136048.1:p.Gln25SerfsTer29 | |
| NM_001304521.1:c.66_72dup | NP_001291450.1:p.Gln25SerfsTer? | |
| NM_183243.2:c.66_72dup | NP_899066.1:p.Gln25SerfsTer? | |
| XM_005250314.1:c.-122_-116dup | XP_005250371.1:n.-122_-116dup | |
| XM_006715967.1:c.66_72dup | XP_006716030.1:p.Gln25SerfsTer29 | |
| XM_006715968.1:c.66_72dup | XP_006716031.1:p.Gln25SerfsTer? | |
| XM_006715969.1:c.66_72dup | XP_006716032.1:p.Gln25SerfsTer? | |
| XM_006715970.2:c.66_72dup | XP_006716033.1:p.Gln25SerfsTer? | |
| XM_006715971.1:c.-122_-116dup | XP_006716034.1:n.-122_-116dup | |
| XM_017012172.1:c.-254_-248dup | XP_016867661.1:n.-254_-248dup | |
| XM_017012173.1:c.66_72dup | XP_016867662.1:p.Gln25SerfsTer? | |
| XM_024446755.1:c.66_72dup | XP_024302523.1:p.Gln25SerfsTer? | |
| XM_024446756.1:c.66_72dup | XP_024302524.1:p.Gln25SerfsTer? | |
| XM_024446757.1:c.66_72dup | XP_024302525.1:p.Gln25SerfsTer? | |
| XM_024446758.1:c.-254_-248dup | XP_024302526.1:n.-254_-248dup | |
| NM_000883.4:c.66_72dup MANE Select | NP_000874.2:p.Gln25SerfsTer29 | |
| NM_001102605.2:c.66_72dup | NP_001096075.1:p.Gln25SerfsTer? | |
| NM_001142576.2:c.66_72dup | NP_001136048.1:p.Gln25SerfsTer29 | |
| NM_001304521.2:c.66_72dup | NP_001291450.1:p.Gln25SerfsTer? | |
| NM_183243.3:c.66_72dup | NP_899066.1:p.Gln25SerfsTer? |