Linked Data
dbSNP Id:
rs768102931
ExAC:
17:12896269 C / CCAGGCCG
gnomAD v4:
17-12992952-C-CCAGGCCG
MyVariant Identifiers:
chr17:g.12896269_12896270insCAGGCCG (hg19)
chr17:g.12992952_12992953insCAGGCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992953_12992954insAGGCCGC , CM000679.2:g.12992953_12992954insAGGCCGC | GRCh38 |
| NC_000017.10:g.12896270_12896271insAGGCCGC , CM000679.1:g.12896270_12896271insAGGCCGC | GRCh37 |
| NC_000017.9:g.12836995_12836996insAGGCCGC | NCBI36 |
| NG_015808.1:g.30112_30113insCGGCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2346_2347insCGGCCTG MANE Select | ENSP00000337445.4:p.Glu783ArgfsTer? | |
| ENST00000338034.8:c.2346_2347insCGGCCTG | ENSP00000337445.4:p.Glu783ArgfsTer? | |
| ENST00000395962.6:c.2289_2290insCGGCCTG | ENSP00000379291.1:p.Glu764ArgfsTer? | |
| ENST00000426905.7:c.2226_2227insCGGCCTG | ENSP00000405223.3:p.Glu743ArgfsTer? | |
| ENST00000465825.5:n.2233_2234insCGGCCTG | ||
| ENST00000480891.5:n.2175_2176insCGGCCTG | ||
| ENST00000484122.5:n.3176_3177insCGGCCTG | ||
| ENST00000487229.6:n.1892_1893insCGGCCTG | ||
| ENST00000584650.5:c.1745_1746insCGGCCTG | ||
| NM_001165962.1:c.2226_2227insCGGCCTG | NP_001159434.1:p.Glu743ArgfsTer? | |
| NM_018127.6:c.2346_2347insCGGCCTG | NP_060597.4:p.Glu783ArgfsTer? | |
| NM_173717.1:c.2343_2344insCGGCCTG | NP_776065.1:p.Glu782ArgfsTer? | |
| XM_024450850.1:c.2505_2506insCGGCCTG | XP_024306618.1:p.Glu836ArgfsTer? | |
| XM_024450851.1:c.2427_2428insCGGCCTG | XP_024306619.1:p.Glu810ArgfsTer? | |
| XM_024450852.1:c.2424_2425insCGGCCTG | XP_024306620.1:p.Glu809ArgfsTer? | |
| XM_024450853.1:c.2421_2422insCGGCCTG | XP_024306621.1:p.Glu808ArgfsTer? | |
| XM_024450854.1:c.2385_2386insCGGCCTG | XP_024306622.1:p.Glu796ArgfsTer? | |
| XM_024450855.1:c.2304_2305insCGGCCTG | XP_024306623.1:p.Glu769ArgfsTer? | |
| XM_024450856.1:c.2223_2224insCGGCCTG | XP_024306624.1:p.Glu742ArgfsTer? | |
| XM_024450857.1:c.2223_2224insCGGCCTG | XP_024306625.1:p.Glu742ArgfsTer? | |
| XM_024450858.1:c.2142_2143insCGGCCTG | XP_024306626.1:p.Glu715ArgfsTer? | |
| XM_024450859.1:c.2139_2140insCGGCCTG | XP_024306627.1:p.Glu714ArgfsTer? | |
| XM_024450860.1:c.2064_2065insCGGCCTG | XP_024306628.1:p.Glu689ArgfsTer? | |
| XM_024450861.1:c.2064_2065insCGGCCTG | XP_024306629.1:p.Glu689ArgfsTer? | |
| XM_024450862.1:c.2061_2062insCGGCCTG | XP_024306630.1:p.Glu688ArgfsTer? | |
| NM_018127.7:c.2346_2347insCGGCCTG MANE Select | NP_060597.4:p.Glu783ArgfsTer? | |
| NM_001165962.2:c.2226_2227insCGGCCTG | NP_001159434.1:p.Glu743ArgfsTer? | |
| NM_173717.2:c.2343_2344insCGGCCTG | NP_776065.1:p.Glu782ArgfsTer? |