Linked Data
dbSNP Id:
rs758264548
ExAC:
19:45867443 A / AGGGTCCC
gnomAD v2:
19-45867443-A-AGGGTCCC
gnomAD v4:
19-45364185-A-AGGGTCCC
MyVariant Identifiers:
chr19:g.45867443_45867444insGGGTCCC (hg19)
chr19:g.45364185_45364186insGGGTCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45364186_45364192dup , CM000681.2:g.45364186_45364192dup | GRCh38 |
| NC_000019.9:g.45867444_45867450dup , CM000681.1:g.45867444_45867450dup | GRCh37 |
| NC_000019.8:g.50559284_50559290dup | NCBI36 |
| NG_007067.2:g.11396_11402dup , LRG_461:g.11396_11402dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.815+43_815+49dup | ENSP00000375808.4:n.815+43_815+49dup | |
| ENST00000682414.1:c.815+43_815+49dup | ENSP00000507019.1:n.815+43_815+49dup | |
| ENST00000682508.1:n.844+43_844+49dup | ||
| ENST00000684218.1:c.*73+43_*73+49dup | ENSP00000507804.1:n.*73+43_*73+49dup | |
| ENST00000684407.1:c.692+43_692+49dup | ENSP00000507775.1:n.692+43_692+49dup | |
| ENST00000684458.1:c.815+43_815+49dup | ENSP00000508260.1:n.815+43_815+49dup | |
| ENST00000391945.10:c.815+43_815+49dup MANE Select | ENSP00000375809.4:n.815+43_815+49dup | |
| ENST00000586131.6:c.743+43_743+49dup | ENSP00000464887.1:n.743+43_743+49dup | |
| ENST00000646507.1:n.912+43_912+49dup | ||
| ENST00000391941.6:c.743+43_743+49dup | ENSP00000375805.2:n.743+43_743+49dup | |
| ENST00000391944.7:c.581+43_581+49dup | ENSP00000375808.3:n.581+43_581+49dup | |
| ENST00000391945.8:c.815+43_815+49dup | ENSP00000375809.3:n.815+43_815+49dup | |
| ENST00000485403.6:c.743+43_743+49dup | ENSP00000431229.2:n.743+43_743+49dup | |
| ENST00000586131.5:c.743+43_743+49dup | ENSP00000464887.1:n.743+43_743+49dup | |
| ENST00000586737.5:n.452+43_452+49dup | ||
| ENST00000591309.5:c.*73+43_*73+49dup | ENSP00000465207.1:n.*73+43_*73+49dup | |
| NM_000400.3:c.815+43_815+49dup , LRG_461t1:c.815+43_815+49dup | NP_000391.1:n.815+43_815+49dup | |
| NM_001130867.1:c.743+43_743+49dup | NP_001124339.1:n.743+43_743+49dup | |
| XM_011526611.1:c.737+43_737+49dup | XP_011524913.1:n.737+43_737+49dup | |
| XR_935763.1:n.862+43_862+49dup | ||
| XM_011526611.2:c.737+43_737+49dup | XP_011524913.1:n.737+43_737+49dup | |
| XM_017026467.1:c.692+43_692+49dup | XP_016881956.1:n.692+43_692+49dup | |
| XR_001753633.2:n.862+43_862+49dup | ||
| XR_001753634.2:n.862+43_862+49dup | ||
| NM_000400.4:c.815+43_815+49dup MANE Select | NP_000391.1:n.815+43_815+49dup | |
| NM_001130867.2:c.743+43_743+49dup | NP_001124339.1:n.743+43_743+49dup |