Linked Data
dbSNP Id:
rs1215531620
gnomAD v2:
16-89220530-A-AGCTGGT
gnomAD v3:
16-89154122-A-AGCTGGT
gnomAD v4:
16-89154122-A-AGCTGGT
MyVariant Identifiers:
chr16:g.89220530_89220531insGCTGGT (hg19)
chr16:g.89154122_89154123insGCTGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154130_89154135dup , CM000678.2:g.89154130_89154135dup | GRCh38 |
| NC_000016.9:g.89220538_89220543dup , CM000678.1:g.89220538_89220543dup | GRCh37 |
| NC_000016.8:g.87748039_87748044dup | NCBI36 |
| NG_031961.1:g.65322_65327dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1654_1659dup | ENSP00000320646.4:p.Val553_Glu554insLeuVal | |
| ENST00000614302.5:c.1654_1659dup MANE Select | ENSP00000479130.1:p.Val553_Glu554insLeuVal | |
| ENST00000649953.1:c.1864_1869dup | ENSP00000497456.1:p.Val623_Glu624insLeuVal | |
| ENST00000317447.8:c.1654_1659dup | ENSP00000320646.4:p.Val553_Glu554insLeuVal | |
| ENST00000378345.8:c.859_864dup | ENSP00000367596.4:p.Val288_Glu289insLeuVal | |
| ENST00000393145.5:n.6564_6569dup | ||
| ENST00000406948.7:c.1654_1659dup | ENSP00000384627.3:p.Val553_Glu554insLeuVal | |
| ENST00000537116.5:n.780_785dup | ||
| ENST00000537155.1:n.394_399dup | ||
| ENST00000542688.5:c.*398_*403dup | ENSP00000446281.1:n.*398_*403dup | |
| ENST00000614302.4:c.1654_1659dup | ENSP00000479130.1:p.Val553_Glu554insLeuVal | |
| NM_001127214.3:c.1654_1659dup | NP_001120686.1:p.Val553_Glu554insLeuVal | |
| NM_001243279.2:c.1654_1659dup | NP_001230208.1:p.Val553_Glu554insLeuVal | |
| NM_001284316.1:c.859_864dup | NP_001271245.1:p.Val288_Glu289insLeuVal | |
| NM_174917.4:c.1654_1659dup | NP_777577.2:p.Val553_Glu554insLeuVal | |
| NR_045667.2:n.780_785dup | ||
| NR_104293.1:n.2088_2093dup | ||
| XR_933239.1:n.2095_2100dup | ||
| XR_933240.1:n.2092_2097dup | ||
| XR_933241.1:n.1849_1854dup | ||
| NR_147928.1:n.2132_2137dup | ||
| NR_147929.1:n.1886_1891dup | ||
| XM_017023020.2:c.-3451_-3446dup | XP_016878509.1:n.-3451_-3446dup | |
| XM_024450187.1:c.859_864dup | XP_024305955.1:p.Val288_Glu289insLeuVal | |
| XR_001751864.2:n.1901_1906dup | ||
| XR_933240.3:n.2091_2096dup | ||
| NM_001127214.4:c.1654_1659dup | NP_001120686.1:p.Val553_Glu554insLeuVal | |
| NM_001243279.3:c.1654_1659dup MANE Select | NP_001230208.1:p.Val553_Glu554insLeuVal | |
| NM_001284316.2:c.859_864dup | NP_001271245.1:p.Val288_Glu289insLeuVal | |
| NM_174917.5:c.1654_1659dup | NP_777577.2:p.Val553_Glu554insLeuVal | |
| NR_104293.2:n.2045_2050dup | ||
| NR_147928.2:n.2089_2094dup | ||
| NR_147929.2:n.1843_1848dup |