Linked Data
dbSNP Id:
rs1335697765
gnomAD v2:
17-41219922-A-AAAG
gnomAD v3:
17-43067905-A-AAAG
gnomAD v4:
17-43067905-A-AAAG
MyVariant Identifiers:
chr17:g.41219922_41219923insAAG (hg19)
chr17:g.43067905_43067906insAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067907_43067908insGAA , CM000679.2:g.43067907_43067908insGAA | GRCh38 |
| NC_000017.10:g.41219924_41219925insGAA , CM000679.1:g.41219924_41219925insGAA | GRCh37 |
| NC_000017.9:g.38473450_38473451insGAA | NCBI36 |
| NG_005905.2:g.150078_150079insCTT , LRG_292:g.150078_150079insCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4984-211_4984-210insCTT | ENSP00000417241.2:n.4984-211_4984-210insCTT | |
| ENST00000470026.6:c.4987-211_4987-210insCTT | ENSP00000419274.2:n.4987-211_4987-210insCTT | |
| ENST00000473961.6:c.4861-211_4861-210insCTT | ENSP00000420201.2:n.4861-211_4861-210insCTT | |
| ENST00000476777.6:c.4981-211_4981-210insCTT | ENSP00000417554.2:n.4981-211_4981-210insCTT | |
| ENST00000477152.6:c.4909-211_4909-210insCTT | ENSP00000419988.2:n.4909-211_4909-210insCTT | |
| ENST00000478531.6:c.1675-211_1675-210insCTT | ENSP00000420412.2:n.1675-211_1675-210insCTT | |
| ENST00000489037.2:c.4909-211_4909-210insCTT | ENSP00000420781.2:n.4909-211_4909-210insCTT | |
| ENST00000493919.6:c.1537-211_1537-210insCTT | ENSP00000418819.2:n.1537-211_1537-210insCTT | |
| ENST00000494123.6:c.4987-211_4987-210insCTT | ENSP00000419103.2:n.4987-211_4987-210insCTT | |
| ENST00000497488.2:c.4099-211_4099-210insCTT | ENSP00000418986.2:n.4099-211_4099-210insCTT | |
| ENST00000618469.2:c.4987-211_4987-210insCTT | ENSP00000478114.2:n.4987-211_4987-210insCTT | |
| ENST00000634433.2:c.4864-211_4864-210insCTT | ENSP00000489431.2:n.4864-211_4864-210insCTT | |
| ENST00000644379.2:c.5053-211_5053-210insCTT | ENSP00000496570.2:n.5053-211_5053-210insCTT | |
| ENST00000644555.2:c.1537-211_1537-210insCTT | ENSP00000494614.2:n.1537-211_1537-210insCTT | |
| ENST00000652672.2:c.4846-211_4846-210insCTT | ENSP00000498906.2:n.4846-211_4846-210insCTT | |
| ENST00000484087.6:c.1549-211_1549-210insCTT | ENSP00000419481.2:n.1549-211_1549-210insCTT | |
| ENST00000357654.9:c.4987-211_4987-210insCTT MANE Select | ENSP00000350283.3:n.4987-211_4987-210insCTT | |
| ENST00000471181.7:c.5050-211_5050-210insCTT | ENSP00000418960.2:n.5050-211_5050-210insCTT | |
| ENST00000644379.1:c.1374-211_1374-210insCTT | ||
| ENST00000352993.7:c.1561-211_1561-210insCTT | ENSP00000312236.5:n.1561-211_1561-210insCTT | |
| ENST00000357654.7:c.4987-211_4987-210insCTT | ENSP00000350283.3:n.4987-211_4987-210insCTT | |
| ENST00000461221.5:c.*4770-211_*4770-210insCTT | ENSP00000418548.1:n.*4770-211_*4770-210insCTT | |
| ENST00000468300.5:c.1675-211_1675-210insCTT | ENSP00000417148.1:n.1675-211_1675-210insCTT | |
| ENST00000471181.6:c.5050-211_5050-210insCTT | ENSP00000418960.2:n.5050-211_5050-210insCTT | |
| ENST00000472490.1:n.140-211_140-210insCTT | ||
| ENST00000478531.5:c.1675-211_1675-210insCTT | ENSP00000420412.1:n.1675-211_1675-210insCTT | |
| ENST00000484087.5:c.1300-211_1300-210insCTT | ENSP00000419481.1:n.1300-211_1300-210insCTT | |
| ENST00000491747.6:c.1675-211_1675-210insCTT | ENSP00000420705.2:n.1675-211_1675-210insCTT | |
| ENST00000493795.5:c.4846-211_4846-210insCTT | ENSP00000418775.1:n.4846-211_4846-210insCTT | |
| ENST00000493919.5:c.1537-211_1537-210insCTT | ENSP00000418819.1:n.1537-211_1537-210insCTT | |
| ENST00000586385.5:c.5-3955_5-3954insCTT | ENSP00000465818.1:n.5-3955_5-3954insCTT | |
| ENST00000591534.5:c.460-211_460-210insCTT | ENSP00000467329.1:n.460-211_460-210insCTT | |
| ENST00000591849.5:c.-98-17716_-98-17715insCTT | ENSP00000465347.1:n.-98-17716_-98-17715insCTT | |
| NM_007294.3:c.4987-211_4987-210insCTT , LRG_292t1:c.4987-211_4987-210insCTT | NP_009225.1:n.4987-211_4987-210insCTT | |
| NM_007297.3:c.4846-211_4846-210insCTT | NP_009228.2:n.4846-211_4846-210insCTT | |
| NM_007298.3:c.1675-211_1675-210insCTT | NP_009229.2:n.1675-211_1675-210insCTT | |
| NM_007299.3:c.1675-211_1675-210insCTT | NP_009230.2:n.1675-211_1675-210insCTT | |
| NM_007300.3:c.5050-211_5050-210insCTT | NP_009231.2:n.5050-211_5050-210insCTT | |
| NR_027676.1:n.5123-211_5123-210insCTT | ||
| NM_007294.4:c.4987-211_4987-210insCTT MANE Select | NP_009225.1:n.4987-211_4987-210insCTT | |
| NM_007297.4:c.4846-211_4846-210insCTT | NP_009228.2:n.4846-211_4846-210insCTT | |
| NM_007299.4:c.1675-211_1675-210insCTT | NP_009230.2:n.1675-211_1675-210insCTT | |
| NM_007300.4:c.5050-211_5050-210insCTT | NP_009231.2:n.5050-211_5050-210insCTT | |
| NR_027676.2:n.5164-211_5164-210insCTT |