Linked Data
ClinVar Variation Id:
417761
ClinVar RCV Id:
RCV000477669
dbSNP Id:
rs1060505032
PubMed:
PMID:27993705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85271596del , CM000685.2:g.85271596del | GRCh38 |
| NC_000023.10:g.84526602del , CM000685.1:g.84526602del | GRCh37 |
| NC_000023.9:g.84413258del | NCBI36 |
| NG_012535.1:g.32606del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674551.1:c.2192del MANE Select | ENSP00000502839.1:p.Phe731SerfsTer7 | |
| ENST00000276123.7:c.2054del | ENSP00000276123.3:p.Phe685SerfsTer7 | |
| ENST00000360700.4:c.2192del | ENSP00000353922.4:p.Phe731SerfsTer7 | |
| ENST00000373165.7:c.2054del | ENSP00000362260.3:p.Phe685SerfsTer7 | |
| NM_021998.4:c.2054del | NP_068838.3:p.Phe685SerfsTer7 | |
| XM_005262186.1:c.2192del | XP_005262243.1:p.Phe731SerfsTer7 | |
| XM_005262187.1:c.2192del | XP_005262244.1:p.Phe731SerfsTer7 | |
| XM_005262188.1:c.2192del | XP_005262245.1:p.Phe731SerfsTer7 | |
| XM_005262189.1:c.2054del | XP_005262246.1:p.Phe685SerfsTer7 | |
| XM_011531019.1:c.2204del | XP_011529321.1:p.Phe735SerfsTer7 | |
| XM_011531020.1:c.2204del | XP_011529322.1:p.Phe735SerfsTer7 | |
| XM_011531021.1:c.2204del | XP_011529323.1:p.Phe735SerfsTer7 | |
| XM_011531022.1:c.2204del | XP_011529324.1:p.Phe735SerfsTer7 | |
| XM_011531023.1:c.2204del | XP_011529325.1:p.Phe735SerfsTer7 | |
| XM_011531024.1:c.2192del | XP_011529326.1:p.Phe731SerfsTer7 | |
| XM_011531025.1:c.2066del | XP_011529327.1:p.Phe689SerfsTer7 | |
| XM_011531026.1:c.2054del | XP_011529328.1:p.Phe685SerfsTer7 | |
| NM_001330574.1:c.2192del | NP_001317503.1:p.Phe731SerfsTer7 | |
| XM_005262186.3:c.2192del | XP_005262243.1:p.Phe731SerfsTer7 | |
| XM_005262189.3:c.2054del | XP_005262246.1:p.Phe685SerfsTer7 | |
| XM_011531023.3:c.2204del | XP_011529325.1:p.Phe735SerfsTer7 | |
| XM_017029803.1:c.2204del | XP_016885292.1:p.Phe735SerfsTer7 | |
| XM_017029805.1:c.2192del | XP_016885294.1:p.Phe731SerfsTer7 | |
| XM_017029807.1:c.2054del | XP_016885296.1:p.Phe685SerfsTer7 | |
| XM_017029808.1:c.2054del | XP_016885297.1:p.Phe685SerfsTer7 | |
| XM_017029809.1:c.2054del | XP_016885298.1:p.Phe685SerfsTer7 | |
| NM_001330574.2:c.2192del MANE Select | NP_001317503.1:p.Phe731SerfsTer7 | |
| NM_001375431.1:c.2192del | NP_001362360.1:p.Phe731SerfsTer7 | |
| NM_001375432.1:c.2192del | NP_001362361.1:p.Phe731SerfsTer7 | |
| NM_001375433.1:c.2192del | NP_001362362.1:p.Phe731SerfsTer7 | |
| NM_001375434.1:c.2054del | NP_001362363.1:p.Phe685SerfsTer7 | |
| NM_001375435.1:c.2054del | NP_001362364.1:p.Phe685SerfsTer7 | |
| NM_001375436.1:c.2054del | NP_001362365.1:p.Phe685SerfsTer7 | |
| NM_001375437.1:c.2054del | NP_001362366.1:p.Phe685SerfsTer7 | |
| NM_021998.5:c.2054del | NP_068838.3:p.Phe685SerfsTer7 |