Linked Data
dbSNP Id:
rs1269050401
gnomAD v2:
X-154001237-AATGG-A
gnomAD v3:
X-154772962-AATGG-A
gnomAD v4:
X-154772962-AATGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154772964_154772967del , CM000685.2:g.154772964_154772967del | GRCh38 |
| NC_000023.10:g.154001239_154001242del , CM000685.1:g.154001239_154001242del | GRCh37 |
| NC_000023.9:g.153654433_153654436del | NCBI36 |
| NG_009780.1:g.15209_15212del , LRG_55:g.15209_15212del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.917-167_917-164del | ENSP00000400542.2:n.917-167_917-164del | |
| ENST00000426673.6:c.*420-167_*420-164del | ENSP00000407253.3:n.*420-167_*420-164del | |
| ENST00000484317.6:n.822-167_822-164del | ||
| ENST00000696575.1:c.1037-167_1037-164del | ENSP00000512730.1:n.1037-167_1037-164del | |
| ENST00000696577.1:c.1037-167_1037-164del | ENSP00000512731.1:n.1037-167_1037-164del | |
| ENST00000696578.1:c.916-167_916-164del | ENSP00000512732.1:n.916-167_916-164del | |
| ENST00000696579.1:n.1139-167_1139-164del | ||
| ENST00000696580.1:c.950-167_950-164del | ENSP00000512733.1:n.950-167_950-164del | |
| ENST00000696581.1:c.*1011-167_*1011-164del | ENSP00000512734.1:n.*1011-167_*1011-164del | |
| ENST00000696582.1:c.*243-167_*243-164del | ENSP00000512735.1:n.*243-167_*243-164del | |
| ENST00000696583.1:c.998-167_998-164del | ENSP00000512736.1:n.998-167_998-164del | |
| ENST00000696584.1:n.1561-167_1561-164del | ||
| ENST00000696585.1:n.1680-167_1680-164del | ||
| ENST00000696586.1:n.1454-167_1454-164del | ||
| ENST00000696587.1:c.917-167_917-164del | ENSP00000512737.1:n.917-167_917-164del | |
| ENST00000696588.1:c.428-167_428-164del | ENSP00000513251.1:n.428-167_428-164del | |
| ENST00000696589.1:n.812-167_812-164del | ||
| ENST00000696590.1:n.661-167_661-164del | ||
| ENST00000696591.1:n.386-167_386-164del | ||
| ENST00000696592.1:n.1749_1752del | ||
| ENST00000696627.1:c.1037-167_1037-164del | ENSP00000512764.1:n.1037-167_1037-164del | |
| ENST00000696628.1:c.1037-167_1037-164del | ENSP00000512765.1:n.1037-167_1037-164del | |
| ENST00000369550.10:c.1037-167_1037-164del MANE Select | ENSP00000358563.5:n.1037-167_1037-164del | |
| ENST00000369550.9:c.1037-167_1037-164del | ENSP00000358563.5:n.1037-167_1037-164del | |
| ENST00000412124.5:c.295-167_295-164del | ||
| ENST00000426673.5:c.397-167_397-164del | ||
| ENST00000475966.1:n.526-167_526-164del | ||
| ENST00000620277.4:c.1037-167_1037-164del | ENSP00000478387.1:n.1037-167_1037-164del | |
| NM_001142463.2:c.1037-167_1037-164del | NP_001135935.1:n.1037-167_1037-164del | |
| NM_001288747.1:c.1037-167_1037-164del | NP_001275676.1:n.1037-167_1037-164del | |
| NM_001363.4:c.1037-167_1037-164del | NP_001354.1:n.1037-167_1037-164del | |
| NR_110021.1:n.1738-167_1738-164del | ||
| NR_110022.1:n.1857-167_1857-164del | ||
| NR_110023.1:n.1631-167_1631-164del | ||
| NM_001363.5:c.1037-167_1037-164del MANE Select | NP_001354.1:n.1037-167_1037-164del | |
| NM_001142463.3:c.1037-167_1037-164del | NP_001135935.1:n.1037-167_1037-164del | |
| NR_110021.2:n.1616-167_1616-164del | ||
| NR_110022.2:n.1735-167_1735-164del | ||
| NR_110023.2:n.1509-167_1509-164del | ||
| NM_001288747.2:c.1037-167_1037-164del | NP_001275676.1:n.1037-167_1037-164del |