Linked Data
dbSNP Id:
rs1557736833
gnomAD v2:
1-6529188-C-CTCCTCCCCTCCTCCTCCTCT
gnomAD v3:
1-6469128-C-CTCCTCCCCTCCTCCTCCTCT
gnomAD v4:
1-6469128-C-CTCCTCCCCTCCTCCTCCTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6469134_6469135insCCTCCTCCTCCTCTTCCTCC , CM000663.2:g.6469134_6469135insCCTCCTCCTCCTCTTCCTCC | GRCh38 |
| NC_000001.10:g.6529194_6529195insCCTCCTCCTCCTCTTCCTCC , CM000663.1:g.6529194_6529195insCCTCCTCCTCCTCTTCCTCC | GRCh37 |
| NC_000001.9:g.6451781_6451782insCCTCCTCCTCCTCTTCCTCC | NCBI36 |
| NG_007978.1:g.55881_55882insAGAGGAGGAGGAGGGGAGGA , LRG_262:g.55881_55882insAGAGGAGGAGGAGGGGAGGA | |
| NG_029910.1:g.2067_2068insAGAGGAGGAGGAGGGGAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000344570.5:p.Gly724GlufsTer? | |
| ENST00000377728.8:c.2162_2163insAGAGGAGGAGGAGGGGAGGA MANE Select | ENSP00000366957.3:p.Gly724GlufsTer? | |
| ENST00000377740.5:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000366969.4:p.Gly724GlufsTer? | |
| ENST00000377748.6:c.2336_2337insAGAGGAGGAGGAGGGGAGGA | ENSP00000366977.2:p.Gly782GlufsTer? | |
| ENST00000400913.6:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000383704.1:p.Gly724GlufsTer? | |
| ENST00000400915.8:c.2273_2274insAGAGGAGGAGGAGGGGAGGA | ENSP00000383706.4:p.Gly761GlufsTer? | |
| ENST00000489097.6:n.2638_2639insAGAGGAGGAGGAGGGGAGGA | ||
| ENST00000535355.6:c.2369_2370insAGAGGAGGAGGAGGGGAGGA | ENSP00000441445.1:p.Gly793GlufsTer? | |
| ENST00000537245.6:c.2273_2274insAGAGGAGGAGGAGGGGAGGA | ENSP00000439625.2:p.Gly761GlufsTer? | |
| ENST00000673471.2:c.2459_2460insAGAGGAGGAGGAGGGGAGGA | ENSP00000500749.1:p.Gly823GlufsTer? | |
| ENST00000674790.1:c.*2374_*2375insAGAGGAGGAGGAGGGGAGGA | ENSP00000502815.1:n.*2374_*2375insAGAGGAGGAGGAGGGGAGGA | |
| ENST00000675123.1:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000502132.1:p.Gly724GlufsTer? | |
| ENST00000675139.1:n.233_234insAGAGGAGGAGGAGGGGAGGA | ||
| ENST00000675548.1:c.*1990_*1991insAGAGGAGGAGGAGGGGAGGA | ENSP00000502684.1:n.*1990_*1991insAGAGGAGGAGGAGGGGAGGA | |
| ENST00000675694.1:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000501925.1:p.Gly724GlufsTer? | |
| ENST00000675976.1:c.35_36insAGAGGAGGAGGAGGGGAGGA | ENSP00000501611.1:p.Gly15GlufsTer? | |
| ENST00000340850.9:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000344570.5:p.Gly724GlufsTer? | |
| ENST00000377725.5:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000366954.1:p.Gly724GlufsTer? | |
| ENST00000377728.7:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000366957.3:p.Gly724GlufsTer? | |
| ENST00000377732.5:c.2273_2274insAGAGGAGGAGGAGGGGAGGA | ENSP00000366961.1:p.Gly761GlufsTer? | |
| ENST00000377740.4:c.2393_2394insAGAGGAGGAGGAGGGGAGGA | ENSP00000366969.3:p.Gly801GlufsTer? | |
| ENST00000377748.5:c.2393_2394insAGAGGAGGAGGAGGGGAGGA | ENSP00000366977.1:p.Gly801GlufsTer? | |
| ENST00000400913.5:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | ENSP00000383704.1:p.Gly724GlufsTer? | |
| ENST00000400915.7:c.2330_2331insAGAGGAGGAGGAGGGGAGGA | ENSP00000383706.3:p.Gly780GlufsTer? | |
| ENST00000487949.4:n.1364_1365insAGAGGAGGAGGAGGGGAGGA | ||
| ENST00000489097.5:n.2638_2639insAGAGGAGGAGGAGGGGAGGA | ||
| ENST00000535355.5:c.2369_2370insAGAGGAGGAGGAGGGGAGGA | ENSP00000441445.1:p.Gly793GlufsTer? | |
| ENST00000537245.5:c.2399_2400insAGAGGAGGAGGAGGGGAGGA | ENSP00000439625.1:p.Gly803GlufsTer? | |
| NM_001042663.1:c.2330_2331insAGAGGAGGAGGAGGGGAGGA | NP_001036128.1:p.Gly780GlufsTer? | |
| NM_001042664.1:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | NP_001036129.1:p.Gly724GlufsTer? | |
| NM_001042665.1:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | NP_001036130.1:p.Gly724GlufsTer? | |
| NM_001265592.1:c.2399_2400insAGAGGAGGAGGAGGGGAGGA | NP_001252521.1:p.Gly803GlufsTer? | |
| NM_001265593.1:c.2369_2370insAGAGGAGGAGGAGGGGAGGA | NP_001252522.1:p.Gly793GlufsTer? | |
| NM_001265594.1:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | NP_001252523.1:p.Gly724GlufsTer? | |
| NM_020631.4:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | NP_065682.2:p.Gly724GlufsTer? | |
| NM_198681.3:c.2393_2394insAGAGGAGGAGGAGGGGAGGA | NP_941374.2:p.Gly801GlufsTer? | |
| NM_001042663.2:c.2330_2331insAGAGGAGGAGGAGGGGAGGA | NP_001036128.1:p.Gly780GlufsTer? | |
| NM_001265594.2:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | NP_001252523.1:p.Gly724GlufsTer? | |
| NM_020631.5:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | NP_065682.2:p.Gly724GlufsTer? | |
| NM_001042663.3:c.2273_2274insAGAGGAGGAGGAGGGGAGGA | NP_001036128.2:p.Gly761GlufsTer? | |
| NM_001265592.2:c.2273_2274insAGAGGAGGAGGAGGGGAGGA | NP_001252521.2:p.Gly761GlufsTer? | |
| NM_020631.6:c.2162_2163insAGAGGAGGAGGAGGGGAGGA MANE Select | NP_065682.2:p.Gly724GlufsTer? | |
| NM_198681.4:c.2162_2163insAGAGGAGGAGGAGGGGAGGA | NP_941374.3:p.Gly724GlufsTer? |