Linked Data
dbSNP Id:
rs1439348270
gnomAD v2:
17-37880617-A-ATTC
MyVariant Identifiers:
chr17:g.37880617_37880618insTTC (hg19)
chr17:g.39724364_39724365insTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724369_39724371dup , CM000679.2:g.39724369_39724371dup | GRCh38 |
| NC_000017.10:g.37880622_37880624dup , CM000679.1:g.37880622_37880624dup | GRCh37 |
| NC_000017.9:g.35134148_35134150dup | NCBI36 |
| NG_007503.1:g.41230_41232dup , LRG_724:g.41230_41232dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2308-357_2308-355dup MANE Select | ENSP00000269571.4:n.2308-357_2308-355dup | |
| ENST00000269571.9:c.2308-357_2308-355dup | ENSP00000269571.4:n.2308-357_2308-355dup | |
| ENST00000406381.6:c.2218-357_2218-355dup | ENSP00000385185.2:n.2218-357_2218-355dup | |
| ENST00000445658.6:c.1480-357_1480-355dup | ENSP00000404047.2:n.1480-357_1480-355dup | |
| ENST00000541774.5:c.2263-357_2263-355dup | ENSP00000446466.1:n.2263-357_2263-355dup | |
| ENST00000578373.5:c.*2098-357_*2098-355dup | ENSP00000463427.1:n.*2098-357_*2098-355dup | |
| ENST00000580074.1:c.414-357_414-355dup | ||
| ENST00000583038.5:n.3442-357_3442-355dup | ||
| ENST00000584450.5:c.2308-357_2308-355dup | ENSP00000463714.1:n.2308-357_2308-355dup | |
| ENST00000584601.5:c.2218-357_2218-355dup | ENSP00000462438.1:n.2218-357_2218-355dup | |
| NM_001005862.2:c.2218-357_2218-355dup , LRG_724t1:c.2218-357_2218-355dup | NP_001005862.1:n.2218-357_2218-355dup | |
| NM_001289936.1:c.2263-357_2263-355dup , LRG_724t4:c.2263-357_2263-355dup | NP_001276865.1:n.2263-357_2263-355dup | |
| NM_001289937.1:c.2308-357_2308-355dup | NP_001276866.1:n.2308-357_2308-355dup | |
| NM_004448.3:c.2308-357_2308-355dup , LRG_724t2:c.2308-357_2308-355dup | NP_004439.2:n.2308-357_2308-355dup | |
| NR_110535.1:n.2632-357_2632-355dup | ||
| XM_024450641.1:c.2446-357_2446-355dup | XP_024306409.1:n.2446-357_2446-355dup | |
| XM_024450642.1:c.2401-357_2401-355dup | XP_024306410.1:n.2401-357_2401-355dup | |
| XM_024450643.1:c.2356-357_2356-355dup | XP_024306411.1:n.2356-357_2356-355dup | |
| NM_001005862.3:c.2218-357_2218-355dup | NP_001005862.1:n.2218-357_2218-355dup | |
| NM_001289936.2:c.2263-357_2263-355dup | NP_001276865.1:n.2263-357_2263-355dup | |
| NM_001289937.2:c.2308-357_2308-355dup | NP_001276866.1:n.2308-357_2308-355dup | |
| NM_001382782.1:c.2218-357_2218-355dup | NP_001369711.1:n.2218-357_2218-355dup | |
| NM_001382783.1:c.2218-357_2218-355dup | NP_001369712.1:n.2218-357_2218-355dup | |
| NM_001382784.1:c.2425-357_2425-355dup | NP_001369713.1:n.2425-357_2425-355dup | |
| NM_001382785.1:c.2410-357_2410-355dup | NP_001369714.1:n.2410-357_2410-355dup | |
| NM_001382786.1:c.2389-357_2389-355dup | NP_001369715.1:n.2389-357_2389-355dup | |
| NM_001382787.1:c.2383-357_2383-355dup | NP_001369716.1:n.2383-357_2383-355dup | |
| NM_001382788.1:c.2338-357_2338-355dup | NP_001369717.1:n.2338-357_2338-355dup | |
| NM_001382789.1:c.2329-357_2329-355dup | NP_001369718.1:n.2329-357_2329-355dup | |
| NM_001382790.1:c.2305-357_2305-355dup | NP_001369719.1:n.2305-357_2305-355dup | |
| NM_001382791.1:c.2299-357_2299-355dup | NP_001369720.1:n.2299-357_2299-355dup | |
| NM_001382792.1:c.2272-357_2272-355dup | NP_001369721.1:n.2272-357_2272-355dup | |
| NM_001382793.1:c.2266-357_2266-355dup | NP_001369722.1:n.2266-357_2266-355dup | |
| NM_001382794.1:c.2266-357_2266-355dup | NP_001369723.1:n.2266-357_2266-355dup | |
| NM_001382795.1:c.2260-357_2260-355dup | NP_001369724.1:n.2260-357_2260-355dup | |
| NM_001382796.1:c.2308-357_2308-355dup | NP_001369725.1:n.2308-357_2308-355dup | |
| NM_001382797.1:c.2209-357_2209-355dup | NP_001369726.1:n.2209-357_2209-355dup | |
| NM_001382798.1:c.2308-357_2308-355dup | NP_001369727.1:n.2308-357_2308-355dup | |
| NM_001382799.1:c.2128-357_2128-355dup | NP_001369728.1:n.2128-357_2128-355dup | |
| NM_001382800.1:c.2307+359_2307+361dup | NP_001369729.1:n.2307+359_2307+361dup | |
| NM_001382801.1:c.2260-357_2260-355dup | NP_001369730.1:n.2260-357_2260-355dup | |
| NM_001382802.1:c.2050-357_2050-355dup | NP_001369731.1:n.2050-357_2050-355dup | |
| NM_001382803.1:c.2266-357_2266-355dup | NP_001369732.1:n.2266-357_2266-355dup | |
| NM_001382804.1:c.1480-357_1480-355dup | NP_001369733.1:n.1480-357_1480-355dup | |
| NM_001382805.1:c.2208+709_2208+711dup | NP_001369734.1:n.2208+709_2208+711dup | |
| NM_001382806.1:c.1270-357_1270-355dup | NP_001369735.1:n.1270-357_1270-355dup | |
| NM_004448.4:c.2308-357_2308-355dup MANE Select | NP_004439.2:n.2308-357_2308-355dup | |
| NR_110535.2:n.2546-357_2546-355dup |