Linked Data
dbSNP Id:
rs1245025914
gnomAD v2:
17-41197307-T-TCTCTTG
gnomAD v3:
17-43045290-T-TCTCTTG
gnomAD v4:
17-43045290-T-TCTCTTG
MyVariant Identifiers:
chr17:g.41197307_41197308insCTCTTG (hg19)
chr17:g.43045290_43045291insCTCTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045290_43045291insCTCTTG , CM000679.2:g.43045290_43045291insCTCTTG | GRCh38 |
| NC_000017.10:g.41197307_41197308insCTCTTG , CM000679.1:g.41197307_41197308insCTCTTG | GRCh37 |
| NC_000017.9:g.38450833_38450834insCTCTTG | NCBI36 |
| NG_005905.2:g.172693_172694insCAAGAG , LRG_292:g.172693_172694insCAAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.*387_*388insCAAGAG | ENSP00000417241.2:n.*387_*388insCAAGAG | |
| ENST00000470026.6:c.*387_*388insCAAGAG | ENSP00000419274.2:n.*387_*388insCAAGAG | |
| ENST00000473961.6:c.*387_*388insCAAGAG | ENSP00000420201.2:n.*387_*388insCAAGAG | |
| ENST00000476777.6:c.*387_*388insCAAGAG | ENSP00000417554.2:n.*387_*388insCAAGAG | |
| ENST00000477152.6:c.*387_*388insCAAGAG | ENSP00000419988.2:n.*387_*388insCAAGAG | |
| ENST00000478531.6:c.*387_*388insCAAGAG | ENSP00000420412.2:n.*387_*388insCAAGAG | |
| ENST00000489037.2:c.*387_*388insCAAGAG | ENSP00000420781.2:n.*387_*388insCAAGAG | |
| ENST00000493919.6:c.*387_*388insCAAGAG | ENSP00000418819.2:n.*387_*388insCAAGAG | |
| ENST00000494123.6:c.*387_*388insCAAGAG | ENSP00000419103.2:n.*387_*388insCAAGAG | |
| ENST00000497488.2:c.*387_*388insCAAGAG | ENSP00000418986.2:n.*387_*388insCAAGAG | |
| ENST00000618469.2:c.*387_*388insCAAGAG | ENSP00000478114.2:n.*387_*388insCAAGAG | |
| ENST00000634433.2:c.*387_*388insCAAGAG | ENSP00000489431.2:n.*387_*388insCAAGAG | |
| ENST00000644379.2:c.*387_*388insCAAGAG | ENSP00000496570.2:n.*387_*388insCAAGAG | |
| ENST00000644555.2:c.*387_*388insCAAGAG | ENSP00000494614.2:n.*387_*388insCAAGAG | |
| ENST00000652672.2:c.*387_*388insCAAGAG | ENSP00000498906.2:n.*387_*388insCAAGAG | |
| ENST00000700081.1:n.1862_1863insCAAGAG | ||
| ENST00000700082.1:n.1343_1344insCAAGAG | ||
| ENST00000357654.9:c.*387_*388insCAAGAG MANE Select | ENSP00000350283.3:n.*387_*388insCAAGAG | |
| ENST00000471181.7:c.*387_*388insCAAGAG | ENSP00000418960.2:n.*387_*388insCAAGAG | |
| ENST00000644379.1:c.2366_2367insCAAGAG | ||
| ENST00000352993.7:c.*387_*388insCAAGAG | ENSP00000312236.5:n.*387_*388insCAAGAG | |
| ENST00000357654.7:c.*387_*388insCAAGAG | ENSP00000350283.3:n.*387_*388insCAAGAG | |
| ENST00000468300.5:c.*493_*494insCAAGAG | ENSP00000417148.1:n.*493_*494insCAAGAG | |
| NM_007294.3:c.*387_*388insCAAGAG , LRG_292t1:c.*387_*388insCAAGAG | NP_009225.1:n.*387_*388insCAAGAG | |
| NM_007297.3:c.*387_*388insCAAGAG | NP_009228.2:n.*387_*388insCAAGAG | |
| NM_007298.3:c.*387_*388insCAAGAG | NP_009229.2:n.*387_*388insCAAGAG | |
| NM_007299.3:c.*493_*494insCAAGAG | NP_009230.2:n.*493_*494insCAAGAG | |
| NM_007300.3:c.*387_*388insCAAGAG | NP_009231.2:n.*387_*388insCAAGAG | |
| NR_027676.1:n.6115_6116insCAAGAG | ||
| NM_007294.4:c.*387_*388insCAAGAG MANE Select | NP_009225.1:n.*387_*388insCAAGAG | |
| NM_007297.4:c.*387_*388insCAAGAG | NP_009228.2:n.*387_*388insCAAGAG | |
| NM_007299.4:c.*493_*494insCAAGAG | NP_009230.2:n.*493_*494insCAAGAG | |
| NM_007300.4:c.*387_*388insCAAGAG | NP_009231.2:n.*387_*388insCAAGAG | |
| NR_027676.2:n.6156_6157insCAAGAG |