Linked Data
dbSNP Id:
rs1323863451
gnomAD v2:
7-87169416-C-CTTTTT
MyVariant Identifiers:
chr7:g.87169416_87169417insTTTTT (hg19)
chr7:g.87540100_87540101insTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87540101_87540102insTTTTT , CM000669.2:g.87540101_87540102insTTTTT | GRCh38 |
| NC_000007.13:g.87169417_87169418insTTTTT , CM000669.1:g.87169417_87169418insTTTTT | GRCh37 |
| NC_000007.12:g.87007353_87007354insTTTTT | NCBI36 |
| NG_011513.1:g.178148_178149insAAAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.2320-756_2320-755insAAAAA | ENSP00000265724.3:n.2320-756_2320-755insA... | |
| ENST00000622132.5:c.2320-756_2320-755insAAAAA MANE Select | ENSP00000478255.1:n.2320-756_2320-755insA... | |
| ENST00000265724.7:c.2320-756_2320-755insAAAAA | ENSP00000265724.3:n.2320-756_2320-755insA... | |
| ENST00000543898.5:c.2128-756_2128-755insAAAAA | ENSP00000444095.1:n.2128-756_2128-755insA... | |
| ENST00000622132.4:c.2320-756_2320-755insAAAAA | ENSP00000478255.1:n.2320-756_2320-755insA... | |
| NM_000927.4:c.2320-756_2320-755insAAAAA | NP_000918.2:n.2320-756_2320-755insAAAAA | |
| NM_001348944.1:c.2320-756_2320-755insAAAAA | NP_001335873.1:n.2320-756_2320-755insAAAA... | |
| NM_001348945.1:c.2530-756_2530-755insAAAAA | NP_001335874.1:n.2530-756_2530-755insAAAA... | |
| NM_001348946.1:c.2320-756_2320-755insAAAAA | NP_001335875.1:n.2320-756_2320-755insAAAA... | |
| NM_001348946.2:c.2320-756_2320-755insAAAAA MANE Select | NP_001335875.1:n.2320-756_2320-755insAAAA... | |
| NM_000927.5:c.2320-756_2320-755insAAAAA | NP_000918.2:n.2320-756_2320-755insAAAAA | |
| NM_001348944.2:c.2320-756_2320-755insAAAAA | NP_001335873.1:n.2320-756_2320-755insAAAA... | |
| NM_001348945.2:c.2530-756_2530-755insAAAAA | NP_001335874.1:n.2530-756_2530-755insAAAA... |