Linked Data
dbSNP Id:
rs1567721576
gnomAD v2:
17-1631832-TGTG-T
gnomAD v4:
17-1728538-TGTG-T
MyVariant Identifiers:
chr17:g.1631833_1631835del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1728540_1728542del , CM000679.2:g.1728540_1728542del | GRCh38 |
| NC_000017.10:g.1631834_1631836del , CM000679.1:g.1631834_1631836del | GRCh37 |
| NC_000017.9:g.1578584_1578586del | NCBI36 |
| NG_032811.1:g.17018_17020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.3581_3583del MANE Select | ENSP00000386609.1:p.Val1194del | |
| ENST00000309182.9:c.428_430del | ENSP00000312074.5:p.Val143del | |
| ENST00000409644.5:c.3581_3583del | ENSP00000386609.1:p.Val1194del | |
| ENST00000418841.5:c.-89+3754_-89+3756del | ENSP00000395198.1:n.-89+3754_-89+3756del | |
| ENST00000419248.5:c.-14-1840_-14-1838del | ENSP00000407845.1:n.-14-1840_-14-1838del | |
| ENST00000437219.6:c.59-1840_59-1838del | ENSP00000391074.2:n.59-1840_59-1838del | |
| ENST00000446363.5:c.-308-2215_-308-2213del | ENSP00000401560.1:n.-308-2215_-308-2213del | |
| ENST00000455636.5:c.59-1840_59-1838del | ENSP00000395226.1:n.59-1840_59-1838del | |
| ENST00000464528.5:n.967_969del | ||
| ENST00000468539.5:c.63-3785_63-3783del | ENSP00000460742.1:n.63-3785_63-3783del | |
| ENST00000492901.1:n.88-1840_88-1838del | ||
| ENST00000575206.1:c.331_333del | ||
| NM_001163673.1:c.59-1840_59-1838del | NP_001157145.1:n.59-1840_59-1838del | |
| NM_001163809.1:c.3581_3583del | NP_001157281.1:p.Val1194del | |
| NM_001163811.1:c.-14-1840_-14-1838del | NP_001157283.1:n.-14-1840_-14-1838del | |
| NM_152348.3:c.428_430del | NP_689561.2:p.Val143del | |
| XM_005256454.2:c.3581_3583del | XP_005256511.1:p.Val1194del | |
| XM_011523650.1:c.3581_3583del | XP_011521952.1:p.Val1194del | |
| XM_011523651.1:c.428_430del | XP_011521953.1:p.Val143del | |
| XR_933973.1:n.3725_3727del | ||
| XM_011523651.2:c.428_430del | XP_011521953.1:p.Val143del | |
| XM_017024184.1:c.3581_3583del | XP_016879673.1:p.Val1194del | |
| XR_001752427.1:n.3733_3735del | ||
| XR_933973.2:n.3733_3735del | ||
| NM_001163809.2:c.3581_3583del MANE Select | NP_001157281.1:p.Val1194del | |
| NM_001163811.2:c.-14-1840_-14-1838del | NP_001157283.1:n.-14-1840_-14-1838del | |
| NM_152348.4:c.428_430del | NP_689561.2:p.Val143del | |
| NM_001163673.2:c.59-1840_59-1838del | NP_001157145.1:n.59-1840_59-1838del |