Linked Data
ClinVar Variation Id:
1987643
ClinVar RCV Id:
RCV002776138
dbSNP Id:
rs147469883
ExAC:
6:43492551 C / CAT
gnomAD v2:
6-43492551-C-CAT
gnomAD v3:
6-43524813-C-CAT
gnomAD v4:
6-43524813-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43524814_43524815dup , CM000668.2:g.43524814_43524815dup | GRCh38 |
| NC_000006.11:g.43492552_43492553dup , CM000668.1:g.43492552_43492553dup | GRCh37 |
| NC_000006.10:g.43600530_43600531dup | NCBI36 |
| NG_028283.3:g.20113_20114dup | |
| NG_051658.1:g.56261_56262dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265351.12:c.3312+16_3312+17dup (XPO5) MANE Select | ENSP00000265351.7:n.3312+16_3312+17dup | |
| ENST00000607635.2:c.922+3766_922+3767dup (POLR1C) | ENSP00000496683.1:n.922+3766_922+3767dup | |
| ENST00000643341.1:c.922+3766_922+3767dup (POLR1C) | ENSP00000496018.1:n.922+3766_922+3767dup | |
| ENST00000643799.1:c.*17+3497_*17+3498dup (POLR1C) | ENSP00000494529.1:n.*17+3497_*17+3498dup | |
| ENST00000646433.1:c.922+3766_922+3767dup (POLR1C) | ENSP00000494368.1:n.922+3766_922+3767dup | |
| ENST00000646700.1:c.922+3766_922+3767dup (POLR1C) | ENSP00000495521.1:n.922+3766_922+3767dup | |
| ENST00000265351.11:c.3312+16_3312+17dup (XPO5) | ENSP00000265351.7:n.3312+16_3312+17dup | |
| ENST00000304004.7:c.922+3766_922+3767dup (POLR1C) | ENSP00000307212.3:n.922+3766_922+3767dup | |
| ENST00000455285.2:c.656+16_656+17dup (XPO5) | ||
| ENST00000455854.2:n.1795+16_1795+17dup (XPO5) | ||
| ENST00000486936.2:c.499+16_499+17dup (XPO5) | ||
| ENST00000488195.6:n.709+16_709+17dup (XPO5) | ||
| NM_020750.2:c.3312+16_3312+17dup (XPO5) | NP_065801.1:n.3312+16_3312+17dup | |
| XM_005249491.1:c.922+3766_922+3767dup (POLR1C) | XP_005249548.1:n.922+3766_922+3767dup | |
| XM_011515000.1:c.922+3766_922+3767dup (POLR1C) | XP_011513302.1:n.922+3766_922+3767dup | |
| NM_001318876.1:c.922+3766_922+3767dup (POLR1C) | NP_001305805.1:n.922+3766_922+3767dup | |
| NM_001363658.1:c.922+3766_922+3767dup (POLR1C) | NP_001350587.1:n.922+3766_922+3767dup | |
| NR_144392.1:n.3661+16_3661+17dup (XPO5) | ||
| NM_020750.3:c.3312+16_3312+17dup (XPO5) MANE Select | NP_065801.1:n.3312+16_3312+17dup | |
| NM_001363658.2:c.922+3766_922+3767dup (POLR1C) | NP_001350587.1:n.922+3766_922+3767dup | |
| NM_001318876.2:c.922+3766_922+3767dup (POLR1C) | NP_001305805.1:n.922+3766_922+3767dup | |
| NR_144392.2:n.3624+16_3624+17dup (XPO5) |