Linked Data
ClinVar Variation Id:
10983
ClinVar RCV Id:
RCV000011730
dbSNP Id:
rs606231197
PubMed:
PMID:16493439
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48902487_48902509del , CM000685.2:g.48902487_48902509del | GRCh38 |
| NC_000023.10:g.48759764_48759786del , CM000685.1:g.48759764_48759786del | GRCh37 |
| NC_000023.9:g.48644708_48644730del | NCBI36 |
| NG_015967.1:g.9570_9592del | |
| NG_015968.2:g.644_666del | |
| NG_034300.1:g.14453_14475del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218224.9:c.547_569del | ENSP00000218224.4:p.Glu183GlnfsTer9 | |
| ENST00000376563.6:c.547_569del | ENSP00000365747.1:p.Glu183GlnfsTer9 | |
| ENST00000396763.6:c.547_569del | ENSP00000379985.1:p.Glu183GlnfsTer9 | |
| ENST00000443648.6:c.547_569del | ENSP00000414861.2:p.Glu183GlnfsTer9 | |
| ENST00000456306.2:c.-32-245_-32-223del | ENSP00000393013.2:n.-32-245_-32-223del | |
| ENST00000472742.6:c.444+103_444+125del | ENSP00000509191.1:n.444+103_444+125del | |
| ENST00000473764.6:n.1162_1184del | ||
| ENST00000474671.6:n.1356_1378del | ||
| ENST00000477997.6:n.1282_1304del | ||
| ENST00000486150.6:n.1456_1478del | ||
| ENST00000692023.1:c.*754_*776del | ENSP00000509927.1:n.*754_*776del | |
| ENST00000447146.7:c.547_569del MANE Select | ENSP00000391759.2:p.Glu183GlnfsTer9 | |
| ENST00000651767.1:c.547_569del | ENSP00000498362.1:p.Glu183GlnfsTer9 | |
| ENST00000218224.8:c.547_569del | ENSP00000218224.4:p.Glu183GlnfsTer9 | |
| ENST00000247140.8:c.293-245_293-223del | ENSP00000247140.4:n.293-245_293-223del | |
| ENST00000376563.5:c.547_569del | ENSP00000365747.1:p.Glu183GlnfsTer9 | |
| ENST00000376566.8:c.293-245_293-223del | ENSP00000365750.4:n.293-245_293-223del | |
| ENST00000396763.5:c.547_569del | ENSP00000379985.1:p.Glu183GlnfsTer9 | |
| ENST00000443648.5:c.547_569del | ENSP00000414861.1:p.Glu183GlnfsTer9 | |
| ENST00000447146.6:c.547_569del | ENSP00000391759.2:p.Glu183GlnfsTer9 | |
| ENST00000456306.1:c.259-245_259-223del | ||
| ENST00000463529.4:n.547_569del | ||
| ENST00000465859.2:n.561_583del | ||
| ENST00000470059.5:n.547_569del | ||
| ENST00000470062.5:n.549+103_549+125del | ||
| ENST00000472742.5:n.613+103_613+125del | ||
| ENST00000473764.5:n.1119_1141del | ||
| ENST00000474671.5:n.607_629del | ||
| ENST00000477997.5:n.628_650del | ||
| NM_001032381.1:c.547_569del | NP_001027553.1:p.Glu183GlnfsTer9 | |
| NM_001032382.1:c.547_569del | NP_001027554.1:p.Glu183GlnfsTer9 | |
| NM_001032383.1:c.547_569del | NP_001027555.1:p.Glu183GlnfsTer9 | |
| NM_001032384.1:c.547_569del | NP_001027556.1:p.Glu183GlnfsTer9 | |
| NM_001167989.1:c.547_569del | NP_001161461.1:p.Glu183GlnfsTer8 | |
| NM_001167990.1:c.523_545del | NP_001161462.1:p.Glu175GlnfsTer9 | |
| NM_001167992.1:c.247_269del | NP_001161464.1:p.Glu83GlnfsTer9 | |
| NM_005710.2:c.547_569del | NP_005701.1:p.Glu183GlnfsTer9 | |
| NM_144495.2:c.293-245_293-223del | NP_652766.1:n.293-245_293-223del | |
| XM_005272571.3:c.547_569del | XP_005272628.1:p.Glu183GlnfsTer8 | |
| XM_005272572.3:c.293-245_293-223del | XP_005272629.1:n.293-245_293-223del | |
| XM_011543884.1:c.547_569del | XP_011542186.1:p.Glu183GlnfsTer9 | |
| XM_005272572.4:c.293-245_293-223del | XP_005272629.1:n.293-245_293-223del | |
| XM_011543884.2:c.547_569del | XP_011542186.1:p.Glu183GlnfsTer9 | |
| XM_017029207.1:c.547_569del | XP_016884696.1:p.Glu183GlnfsTer8 | |
| NM_001032381.2:c.547_569del | NP_001027553.1:p.Glu183GlnfsTer9 | |
| NM_001032382.2:c.547_569del MANE Select | NP_001027554.1:p.Glu183GlnfsTer9 | |
| NM_001032383.2:c.547_569del | NP_001027555.1:p.Glu183GlnfsTer9 | |
| NM_001167989.2:c.547_569del | NP_001161461.1:p.Glu183GlnfsTer8 | |
| NM_001167990.2:c.523_545del | NP_001161462.1:p.Glu175GlnfsTer9 | |
| NM_144495.3:c.293-245_293-223del | NP_652766.1:n.293-245_293-223del |