Linked Data
dbSNP Id:
rs769785873
ExAC:
7:117267560 G / GTTATTT
gnomAD v3:
7-117627506-G-GTTATTT
gnomAD v4:
7-117627506-G-GTTATTT
MyVariant Identifiers:
chr7:g.117267560_117267561insTTATTT (hg19)
chr7:g.117627506_117627507insTTATTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627513_117627518dup , CM000669.2:g.117627513_117627518dup | GRCh38 |
| NC_000007.13:g.117267567_117267572dup , CM000669.1:g.117267567_117267572dup | GRCh37 |
| NC_000007.12:g.117054803_117054808dup | NCBI36 |
| NG_016465.4:g.166730_166735dup , LRG_663:g.166730_166735dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3469-9_3469-4dup | ENSP00000497673.2:n.3469-9_3469-4dup | |
| ENST00000647978.2:c.*3183-9_*3183-4dup | ENSP00000497658.1:n.*3183-9_*3183-4dup | |
| ENST00000649781.2:c.3286-9_3286-4dup | ENSP00000497203.1:n.3286-9_3286-4dup | |
| ENST00000685018.2:c.3469-9_3469-4dup | ENSP00000510194.2:n.3469-9_3469-4dup | |
| ENST00000687278.2:c.*122-9_*122-4dup | ENSP00000509593.2:n.*122-9_*122-4dup | |
| ENST00000699585.1:c.3469-9_3469-4dup | ENSP00000514456.1:n.3469-9_3469-4dup | |
| ENST00000699598.1:c.3469-9_3469-4dup | ENSP00000514467.1:n.3469-9_3469-4dup | |
| ENST00000699599.1:c.3469-9_3469-4dup | ENSP00000514468.1:n.3469-9_3469-4dup | |
| ENST00000699600.1:c.*130-9_*130-4dup | ENSP00000514469.1:n.*130-9_*130-4dup | |
| ENST00000699601.1:c.*1844-9_*1844-4dup | ENSP00000514470.1:n.*1844-9_*1844-4dup | |
| ENST00000699602.1:c.3463-9_3463-4dup | ENSP00000514471.1:n.3463-9_3463-4dup | |
| ENST00000699604.1:c.*3293-9_*3293-4dup | ENSP00000514472.1:n.*3293-9_*3293-4dup | |
| ENST00000699605.1:c.3043-9_3043-4dup | ENSP00000514473.1:n.3043-9_3043-4dup | |
| ENST00000685018.1:c.217-9_217-4dup | ENSP00000510194.1:n.217-9_217-4dup | |
| ENST00000687278.1:c.1256-9_1256-4dup | ENSP00000509593.1:n.1256-9_1256-4dup | |
| ENST00000689011.1:c.51-9_51-4dup | ||
| ENST00000003084.11:c.3469-9_3469-4dup MANE Select | ENSP00000003084.6:n.3469-9_3469-4dup | |
| ENST00000647720.1:c.1119-9_1119-4dup | ||
| ENST00000648260.1:c.2251-9_2251-4dup | ENSP00000497957.1:n.2251-9_2251-4dup | |
| ENST00000649406.1:c.3286-9_3286-4dup | ENSP00000497965.1:n.3286-9_3286-4dup | |
| ENST00000649781.1:c.3286-9_3286-4dup | ENSP00000497203.1:n.3286-9_3286-4dup | |
| ENST00000003084.10:c.3469-9_3469-4dup | ENSP00000003084.6:n.3469-9_3469-4dup | |
| ENST00000426809.5:c.3379-9_3379-4dup | ENSP00000389119.1:n.3379-9_3379-4dup | |
| ENST00000468795.1:c.294-9_294-4dup | ||
| NM_000492.3:c.3469-9_3469-4dup , LRG_663t1:c.3469-9_3469-4dup | NP_000483.3:n.3469-9_3469-4dup | |
| XM_011515751.1:c.3559-9_3559-4dup | XP_011514053.1:n.3559-9_3559-4dup | |
| XM_011515752.1:c.3559-9_3559-4dup | XP_011514054.1:n.3559-9_3559-4dup | |
| XM_011515753.1:c.3226-9_3226-4dup | XP_011514055.1:n.3226-9_3226-4dup | |
| XM_011515754.1:c.3226-9_3226-4dup | XP_011514056.1:n.3226-9_3226-4dup | |
| NM_000492.4:c.3469-9_3469-4dup MANE Select | NP_000483.3:n.3469-9_3469-4dup |