Linked Data
ClinVar Variation Id:
253149
ClinVar RCV Id:
RCV000239462
dbSNP Id:
rs879255649
PubMed:
PMID:26917597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55334508del , CM000664.2:g.55334508del | GRCh38 |
| NC_000002.11:g.55561644del , CM000664.1:g.55561644del | GRCh37 |
| NC_000002.10:g.55415148del | NCBI36 |
| NG_031944.1:g.90416del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263630.13:c.2315del | ENSP00000263630.8:p.Leu772Ter | |
| ENST00000413716.7:c.2315del | ENSP00000404431.3:p.Leu772Ter | |
| ENST00000436346.7:c.2315del MANE Select | ENSP00000410608.1:p.Leu772Ter | |
| ENST00000468534.2:n.1232del | ||
| ENST00000642200.1:c.2315del | ENSP00000495919.1:p.Leu772Ter | |
| ENST00000642563.1:c.170del | ENSP00000493994.1:p.Leu57Ter | |
| ENST00000643265.1:c.1899del | ||
| ENST00000643413.1:c.2315del | ENSP00000494811.1:p.Leu772Ter | |
| ENST00000644630.1:c.2315del | ENSP00000495652.1:p.Leu772Ter | |
| ENST00000644890.1:n.2621del | ||
| ENST00000645072.1:c.2315del | ENSP00000494030.1:p.Leu772Ter | |
| ENST00000645311.1:c.2315del | ENSP00000494054.1:p.Leu772Ter | |
| ENST00000645342.1:n.2739del | ||
| ENST00000645477.1:c.2315del | ENSP00000495712.1:p.Leu772Ter | |
| ENST00000645571.1:n.2938del | ||
| ENST00000645860.1:c.39del | ||
| ENST00000646285.1:c.838del | ||
| ENST00000646796.1:c.2315del | ENSP00000493703.1:p.Leu772Ter | |
| ENST00000647396.1:c.186del | ||
| ENST00000647401.1:c.1679del | ENSP00000496148.1:p.Leu560Ter | |
| ENST00000263630.12:c.2315del | ENSP00000263630.8:p.Leu772Ter | |
| ENST00000336838.10:c.2315del | ENSP00000338728.6:p.Leu772Ter | |
| ENST00000413716.6:c.2315del | ENSP00000404431.2:p.Leu772Ter | |
| ENST00000436346.5:c.2315del | ENSP00000410608.1:p.Leu772Ter | |
| ENST00000621814.4:c.2090del | ENSP00000480931.1:p.Leu697Ter | |
| NM_001135597.1:c.2315del | NP_001129069.1:p.Leu772Ter | |
| NM_001254943.1:c.2315del | NP_001241872.1:p.Leu772Ter | |
| NM_018084.4:c.2315del | NP_060554.3:p.Leu772Ter | |
| XM_005264418.3:c.2315del | XP_005264475.1:p.Leu772Ter | |
| XM_005264421.1:c.2315del | XP_005264478.1:p.Leu772Ter | |
| XM_005264426.1:c.2315del | XP_005264483.1:p.Leu772Ter | |
| XM_011532964.1:c.2021del | XP_011531266.1:p.Leu674Ter | |
| XM_011532965.1:c.2315del | XP_011531267.1:p.Leu772Ter | |
| XM_011532966.1:c.2315del | XP_011531268.1:p.Leu772Ter | |
| XM_011532967.1:c.2315del | XP_011531269.1:p.Leu772Ter | |
| XM_011532968.1:c.2315del | XP_011531270.1:p.Leu772Ter | |
| XM_011532969.1:c.2315del | XP_011531271.1:p.Leu772Ter | |
| NM_001365480.1:c.2315del MANE Select | NP_001352409.1:p.Leu772Ter | |
| XM_005264418.5:c.2315del | XP_005264475.1:p.Leu772Ter | |
| XM_005264421.3:c.2315del | XP_005264478.1:p.Leu772Ter | |
| XM_005264426.3:c.2315del | XP_005264483.1:p.Leu772Ter | |
| XM_011532966.3:c.2315del | XP_011531268.1:p.Leu772Ter | |
| XM_011532967.3:c.2315del | XP_011531269.1:p.Leu772Ter | |
| XM_011532968.3:c.2315del | XP_011531270.1:p.Leu772Ter | |
| XM_017004476.2:c.2315del | XP_016859965.1:p.Leu772Ter | |
| XM_017004477.2:c.2315del | XP_016859966.1:p.Leu772Ter | |
| XM_017004478.2:c.2315del | XP_016859967.1:p.Leu772Ter | |
| XM_017004479.2:c.2315del | XP_016859968.1:p.Leu772Ter | |
| XM_017004480.2:c.2090del | XP_016859969.1:p.Leu697Ter | |
| XM_017004481.2:c.2315del | XP_016859970.1:p.Leu772Ter | |
| NM_001135597.2:c.2315del | NP_001129069.1:p.Leu772Ter | |
| NM_001254943.2:c.2315del | NP_001241872.1:p.Leu772Ter | |
| NM_018084.5:c.2315del | NP_060554.3:p.Leu772Ter |