Linked Data
ClinVar Variation Id:
2745757
ClinVar RCV Id:
RCV003514834
dbSNP Id:
rs780416116
ExAC:
19:10464330 GGA / G
gnomAD v2:
19-10464330-GGA-G
gnomAD v4:
19-10353654-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10353658_10353659del , CM000681.2:g.10353658_10353659del | GRCh38 |
| NC_000019.9:g.10464334_10464335del , CM000681.1:g.10464334_10464335del | GRCh37 |
| NC_000019.8:g.10325334_10325335del | NCBI36 |
| NG_007872.1:g.31917_31918del , LRG_121:g.31917_31918del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1258-10_*1258-9del | ENSP00000514307.1:n.*1258-10_*1258-9del | |
| ENST00000525976.6:c.2909-10_2909-9del | ENSP00000434831.2:n.2909-10_2909-9del | |
| ENST00000527481.3:c.2908+386_2908+387del | ENSP00000466340.2:n.2908+386_2908+387del | |
| ENST00000529370.6:n.4285-10_4285-9del | ||
| ENST00000529739.2:n.3708_3709del | ||
| ENST00000530829.2:c.*2460-10_*2460-9del | ENSP00000436826.2:n.*2460-10_*2460-9del | |
| ENST00000531836.6:c.2909-10_2909-9del | ENSP00000436175.2:n.2909-10_2909-9del | |
| ENST00000533334.2:c.*951-10_*951-9del | ENSP00000432320.2:n.*951-10_*951-9del | |
| ENST00000534228.2:n.4753_4754del | ||
| ENST00000699354.1:n.1011-10_1011-9del | ||
| ENST00000699355.1:c.*2399_*2400del | ENSP00000514328.1:n.*2399_*2400del | |
| ENST00000699356.1:n.3708_3709del | ||
| ENST00000699357.1:n.4753_4754del | ||
| ENST00000699358.1:c.2909-10_2909-9del | ENSP00000514329.1:n.2909-10_2909-9del | |
| ENST00000699359.1:c.115-10_115-9del | ||
| ENST00000699360.1:c.2909-10_2909-9del | ENSP00000514331.1:n.2909-10_2909-9del | |
| ENST00000699364.1:n.27+158_27+159del | ||
| ENST00000699365.1:c.-23-10_-23-9del | ENSP00000514334.1:n.-23-10_-23-9del | |
| ENST00000699366.1:n.111+158_111+159del | ||
| ENST00000699367.1:n.111+158_111+159del | ||
| ENST00000699368.1:c.386_387del | ENSP00000514335.1:n.386_387del | |
| ENST00000525621.6:c.2909-10_2909-9del MANE Select | ENSP00000431885.1:n.2909-10_2909-9del | |
| ENST00000264818.10:c.2909-10_2909-9del | ENSP00000264818.6:n.2909-10_2909-9del | |
| ENST00000524462.5:c.2354-10_2354-9del | ENSP00000433203.1:n.2354-10_2354-9del | |
| ENST00000525621.5:c.2909-10_2909-9del | ENSP00000431885.1:n.2909-10_2909-9del | |
| ENST00000527481.2:c.204+386_204+387del | ||
| ENST00000529739.1:c.-33_-32del | ENSP00000436155.1:n.-33_-32del | |
| ENST00000530560.5:c.337+386_337+387del | ENSP00000465291.1:n.337+386_337+387del | |
| ENST00000592137.1:n.63-10_63-9del | ||
| NM_003331.4:c.2909-10_2909-9del , LRG_121t1:c.2909-10_2909-9del | NP_003322.3:n.2909-10_2909-9del | |
| XM_011528245.1:c.2909-10_2909-9del | XP_011526547.1:n.2909-10_2909-9del | |
| XM_011528246.1:c.2612-10_2612-9del | XP_011526548.1:n.2612-10_2612-9del | |
| XM_011528247.1:c.2612-10_2612-9del | XP_011526549.1:n.2612-10_2612-9del | |
| XM_011528248.1:c.2909-10_2909-9del | XP_011526550.1:n.2909-10_2909-9del | |
| XM_011528249.1:c.1583-10_1583-9del | XP_011526551.1:n.1583-10_1583-9del | |
| XM_011528251.1:c.1166-10_1166-9del | XP_011526553.1:n.1166-10_1166-9del | |
| XM_011528246.3:c.2612-10_2612-9del | XP_011526548.1:n.2612-10_2612-9del | |
| XM_011528249.2:c.1583-10_1583-9del | XP_011526551.1:n.1583-10_1583-9del | |
| XR_001753750.1:n.3066-10_3066-9del | ||
| XR_001753751.1:n.3451_3452del | ||
| XR_002958353.1:n.4377_4378del | ||
| NM_003331.5:c.2909-10_2909-9del MANE Select | NP_003322.3:n.2909-10_2909-9del | |
| NM_001385197.1:c.2909-10_2909-9del | NP_001372126.1:n.2909-10_2909-9del | |
| NM_001385198.1:c.2909-10_2909-9del | NP_001372127.1:n.2909-10_2909-9del | |
| NM_001385199.1:c.2723-10_2723-9del | NP_001372128.1:n.2723-10_2723-9del | |
| NM_001385200.1:c.2906-10_2906-9del | NP_001372129.1:n.2906-10_2906-9del | |
| NM_001385201.1:c.2711-10_2711-9del | NP_001372130.1:n.2711-10_2711-9del | |
| NM_001385202.1:c.2825-10_2825-9del | NP_001372131.1:n.2825-10_2825-9del | |
| NM_001385203.1:c.2990-10_2990-9del | NP_001372132.1:n.2990-10_2990-9del | |
| NM_001385204.1:c.3119-10_3119-9del | NP_001372133.1:n.3119-10_3119-9del | |
| NM_001385205.1:c.2819-10_2819-9del | NP_001372134.1:n.2819-10_2819-9del | |
| NM_001385206.1:c.2783-10_2783-9del | NP_001372135.1:n.2783-10_2783-9del | |
| NM_001385207.1:c.2891-10_2891-9del | NP_001372136.1:n.2891-10_2891-9del |