Linked Data
ClinVar Variation Id:
1658533
ClinVar RCV Id:
RCV002174171
dbSNP Id:
rs748020770
ExAC:
19:10478893 G / GAAATAAA
gnomAD v2:
19-10478893-G-GAAATAAA
gnomAD v3:
19-10368217-G-GAAATAAA
gnomAD v4:
19-10368217-G-GAAATAAA
MyVariant Identifiers:
chr19:g.10478893_10478894insAAATAAA (hg19)
chr19:g.10368217_10368218insAAATAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10368218_10368219insAATAAAA , CM000681.2:g.10368218_10368219insAATAAAA | GRCh38 |
| NC_000019.9:g.10478894_10478895insAATAAAA , CM000681.1:g.10478894_10478895insAATAAAA | GRCh37 |
| NC_000019.8:g.10339894_10339895insAATAAAA | NCBI36 |
| NG_007872.1:g.17355_17356insTTTATTT , LRG_121:g.17355_17356insTTTATTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.318-16_318-15insTTTATTT | ENSP00000514307.1:n.318-16_318-15insTTTATTT | |
| ENST00000525976.6:c.318-16_318-15insTTTATTT | ENSP00000434831.2:n.318-16_318-15insTTTATTT | |
| ENST00000527481.3:c.318-16_318-15insTTTATTT | ENSP00000466340.2:n.318-16_318-15insTTTATTT | |
| ENST00000529370.6:n.649-16_649-15insTTTATTT | ||
| ENST00000529739.2:n.732-16_732-15insTTTATTT | ||
| ENST00000530829.2:c.439-16_439-15insTTTATTT | ENSP00000436826.2:n.439-16_439-15insTTTATTT | |
| ENST00000531836.6:c.318-16_318-15insTTTATTT | ENSP00000436175.2:n.318-16_318-15insTTTATTT | |
| ENST00000533334.2:c.318-16_318-15insTTTATTT | ENSP00000432320.2:n.318-16_318-15insTTTATTT | |
| ENST00000534228.2:n.732-16_732-15insTTTATTT | ||
| ENST00000699355.1:c.318-16_318-15insTTTATTT | ENSP00000514328.1:n.318-16_318-15insTTTATTT | |
| ENST00000699356.1:n.732-16_732-15insTTTATTT | ||
| ENST00000699357.1:n.732-16_732-15insTTTATTT | ||
| ENST00000699358.1:c.318-16_318-15insTTTATTT | ENSP00000514329.1:n.318-16_318-15insTTTATTT | |
| ENST00000699360.1:c.318-16_318-15insTTTATTT | ENSP00000514331.1:n.318-16_318-15insTTTATTT | |
| ENST00000699369.1:n.661-16_661-15insTTTATTT | ||
| ENST00000699370.1:n.683-16_683-15insTTTATTT | ||
| ENST00000699371.1:c.318-16_318-15insTTTATTT | ENSP00000514336.1:n.318-16_318-15insTTTATTT | |
| ENST00000525621.6:c.318-16_318-15insTTTATTT MANE Select | ENSP00000431885.1:n.318-16_318-15insTTTATTT | |
| ENST00000264818.10:c.318-16_318-15insTTTATTT | ENSP00000264818.6:n.318-16_318-15insTTTATTT | |
| ENST00000524462.5:c.-90-1638_-90-1637insTTTATTT | ENSP00000433203.1:n.-90-1638_-90-1637insTTTATTT | |
| ENST00000525621.5:c.318-16_318-15insTTTATTT | ENSP00000431885.1:n.318-16_318-15insTTTATTT | |
| ENST00000525824.1:c.231-16_231-15insTTTATTT | ENSP00000467288.1:n.231-16_231-15insTTTATTT | |
| ENST00000529317.1:n.246-16_246-15insTTTATTT | ||
| ENST00000529370.5:c.318-16_318-15insTTTATTT | ENSP00000432728.1:n.318-16_318-15insTTTATTT | |
| ENST00000531836.5:c.318-16_318-15insTTTATTT | ENSP00000436175.1:n.318-16_318-15insTTTATTT | |
| NM_003331.4:c.318-16_318-15insTTTATTT , LRG_121t1:c.318-16_318-15insTTTATTT | NP_003322.3:n.318-16_318-15insTTTATTT | |
| XM_011528245.1:c.318-16_318-15insTTTATTT | XP_011526547.1:n.318-16_318-15insTTTATTT | |
| XM_011528246.1:c.21-16_21-15insTTTATTT | XP_011526548.1:n.21-16_21-15insTTTATTT | |
| XM_011528247.1:c.21-16_21-15insTTTATTT | XP_011526549.1:n.21-16_21-15insTTTATTT | |
| XM_011528248.1:c.318-16_318-15insTTTATTT | XP_011526550.1:n.318-16_318-15insTTTATTT | |
| XM_011528250.1:c.318-16_318-15insTTTATTT | XP_011526552.1:n.318-16_318-15insTTTATTT | |
| XM_011528252.1:c.318-16_318-15insTTTATTT | XP_011526554.1:n.318-16_318-15insTTTATTT | |
| XM_011528246.3:c.21-16_21-15insTTTATTT | XP_011526548.1:n.21-16_21-15insTTTATTT | |
| XR_001753750.1:n.475-16_475-15insTTTATTT | ||
| XR_001753751.1:n.475-16_475-15insTTTATTT | ||
| XR_001753752.1:n.475-16_475-15insTTTATTT | ||
| XR_002958353.1:n.475-16_475-15insTTTATTT | ||
| NM_003331.5:c.318-16_318-15insTTTATTT MANE Select | NP_003322.3:n.318-16_318-15insTTTATTT | |
| NM_001385197.1:c.318-16_318-15insTTTATTT | NP_001372126.1:n.318-16_318-15insTTTATTT | |
| NM_001385198.1:c.318-16_318-15insTTTATTT | NP_001372127.1:n.318-16_318-15insTTTATTT | |
| NM_001385199.1:c.318-16_318-15insTTTATTT | NP_001372128.1:n.318-16_318-15insTTTATTT | |
| NM_001385200.1:c.318-16_318-15insTTTATTT | NP_001372129.1:n.318-16_318-15insTTTATTT | |
| NM_001385201.1:c.318-16_318-15insTTTATTT | NP_001372130.1:n.318-16_318-15insTTTATTT | |
| NM_001385202.1:c.318-16_318-15insTTTATTT | NP_001372131.1:n.318-16_318-15insTTTATTT | |
| NM_001385203.1:c.318-16_318-15insTTTATTT | NP_001372132.1:n.318-16_318-15insTTTATTT | |
| NM_001385204.1:c.318-16_318-15insTTTATTT | NP_001372133.1:n.318-16_318-15insTTTATTT | |
| NM_001385205.1:c.318-16_318-15insTTTATTT | NP_001372134.1:n.318-16_318-15insTTTATTT | |
| NM_001385206.1:c.318-16_318-15insTTTATTT | NP_001372135.1:n.318-16_318-15insTTTATTT | |
| NM_001385207.1:c.318-16_318-15insTTTATTT | NP_001372136.1:n.318-16_318-15insTTTATTT |