Linked Data
dbSNP Id:
rs1292439517
gnomAD v3:
19-4095275-C-CGCTGCA
gnomAD v4:
19-4095275-C-CGCTGCA
MyVariant Identifiers:
chr19:g.4095273_4095274insGCTGCA (hg19)
chr19:g.4095275_4095276insGCTGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095276_4095281dup , CM000681.2:g.4095276_4095281dup | GRCh38 |
| NC_000019.9:g.4095274_4095279dup , CM000681.1:g.4095274_4095279dup | GRCh37 |
| NC_000019.8:g.4046274_4046279dup | NCBI36 |
| NG_007996.1:g.33848_33853dup , LRG_750:g.33848_33853dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1485+107_1485+112dup | ||
| ENST00000688002.1:n.3197+107_3197+112dup | ||
| ENST00000688751.1:n.182+107_182+112dup | ||
| ENST00000689792.1:n.950+107_950+112dup | ||
| ENST00000262948.10:c.1046+107_1046+112dup MANE Select | ENSP00000262948.4:n.1046+107_1046+112dup | |
| ENST00000262948.9:c.1046+107_1046+112dup | ENSP00000262948.3:n.1046+107_1046+112dup | |
| ENST00000394867.8:c.755+107_755+112dup | ENSP00000378336.1:n.755+107_755+112dup | |
| ENST00000597263.5:n.231+107_231+112dup | ||
| ENST00000599021.1:c.156+107_156+112dup | ||
| ENST00000600584.5:n.1713_1718dup | ||
| ENST00000601786.5:n.1347+107_1347+112dup | ||
| NM_030662.3:c.1046+107_1046+112dup , LRG_750t1:c.1046+107_1046+112dup | NP_109587.1:n.1046+107_1046+112dup | |
| XM_006722799.2:c.767+107_767+112dup | XP_006722862.1:n.767+107_767+112dup | |
| XM_011528133.1:c.476+107_476+112dup | XP_011526435.1:n.476+107_476+112dup | |
| XM_017026989.1:c.1046+107_1046+112dup | XP_016882478.1:n.1046+107_1046+112dup | |
| XM_017026990.1:c.767+107_767+112dup | XP_016882479.1:n.767+107_767+112dup | |
| NM_030662.4:c.1046+107_1046+112dup MANE Select | NP_109587.1:n.1046+107_1046+112dup |