Linked Data
dbSNP Id:
rs886045267
gnomAD v2:
1-150529397-A-ATCTTC
gnomAD v4:
1-150556921-A-ATCTTC
MyVariant Identifiers:
chr1:g.150529397_150529398insTCTTC (hg19)
chr1:g.150556921_150556922insTCTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150556929_150556933dup , CM000663.2:g.150556929_150556933dup | GRCh38 |
| NC_000001.10:g.150529405_150529409dup , CM000663.1:g.150529405_150529409dup | GRCh37 |
| NC_000001.9:g.148796029_148796033dup | NCBI36 |
| NG_012172.1:g.12508_12512dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271643.9:c.1750-10_1750-6dup (ADAMTSL4) MANE Select | ENSP00000271643.4:n.1750-10_1750-6dup | |
| ENST00000674043.1:c.1819-10_1819-6dup (ADAMTSL4) | ENSP00000501295.1:n.1819-10_1819-6dup | |
| ENST00000674058.1:c.1819-10_1819-6dup (ADAMTSL4) | ENSP00000501255.1:n.1819-10_1819-6dup | |
| ENST00000271643.8:c.1750-10_1750-6dup (ADAMTSL4) | ENSP00000271643.4:n.1750-10_1750-6dup | |
| ENST00000369038.6:c.1750-10_1750-6dup (ADAMTSL4) | ENSP00000358034.2:n.1750-10_1750-6dup | |
| ENST00000369039.9:c.1819-10_1819-6dup (ADAMTSL4) | ENSP00000358035.5:n.1819-10_1819-6dup | |
| ENST00000369041.9:c.1750-10_1750-6dup (ADAMTSL4) | ENSP00000358037.5:n.1750-10_1750-6dup | |
| ENST00000622417.4:c.364-10_364-6dup (ADAMTSL4) | ENSP00000477897.1:n.364-10_364-6dup | |
| NM_001288607.1:c.1819-10_1819-6dup (ADAMTSL4) | NP_001275536.1:n.1819-10_1819-6dup | |
| NM_001288608.1:c.1819-10_1819-6dup (ADAMTSL4) | NP_001275537.1:n.1819-10_1819-6dup | |
| NM_019032.5:c.1750-10_1750-6dup (ADAMTSL4) | NP_061905.2:n.1750-10_1750-6dup | |
| NM_025008.4:c.1750-10_1750-6dup (ADAMTSL4) | NP_079284.2:n.1750-10_1750-6dup | |
| XM_011509644.1:c.1918-10_1918-6dup (ADAMTSL4) | XP_011507946.1:n.1918-10_1918-6dup | |
| XM_011509645.1:c.1849-10_1849-6dup (ADAMTSL4) | XP_011507947.1:n.1849-10_1849-6dup | |
| XM_011509646.1:c.1819-10_1819-6dup (ADAMTSL4) | XP_011507948.1:n.1819-10_1819-6dup | |
| XM_011509647.1:c.1819-10_1819-6dup (ADAMTSL4) | XP_011507949.1:n.1819-10_1819-6dup | |
| XM_011509648.1:c.1819-10_1819-6dup (ADAMTSL4) | XP_011507950.1:n.1819-10_1819-6dup | |
| XM_011509649.1:c.1918-10_1918-6dup (ADAMTSL4) | XP_011507951.1:n.1918-10_1918-6dup | |
| XM_011509650.1:c.1918-10_1918-6dup (ADAMTSL4) | XP_011507952.1:n.1918-10_1918-6dup | |
| XM_011509651.1:c.427-10_427-6dup (ADAMTSL4) | XP_011507953.1:n.427-10_427-6dup | |
| XM_011509652.1:c.427-10_427-6dup (ADAMTSL4) | XP_011507954.1:n.427-10_427-6dup | |
| XR_921844.1:n.2103-10_2103-6dup (ADAMTSL4) | ||
| XR_922133.1:n.140-709_140-705dup (ADAMTSL4-AS2) | ||
| XM_011509644.3:c.1918-10_1918-6dup (ADAMTSL4) | XP_011507946.1:n.1918-10_1918-6dup | |
| XM_011509645.3:c.1849-10_1849-6dup (ADAMTSL4) | XP_011507947.1:n.1849-10_1849-6dup | |
| XM_011509648.3:c.1819-10_1819-6dup (ADAMTSL4) | XP_011507950.1:n.1819-10_1819-6dup | |
| XM_011509649.3:c.1918-10_1918-6dup (ADAMTSL4) | XP_011507951.1:n.1918-10_1918-6dup | |
| XM_011509650.3:c.1918-10_1918-6dup (ADAMTSL4) | XP_011507952.1:n.1918-10_1918-6dup | |
| XM_011509651.2:c.427-10_427-6dup (ADAMTSL4) | XP_011507953.1:n.427-10_427-6dup | |
| XM_011509652.2:c.427-10_427-6dup (ADAMTSL4) | XP_011507954.1:n.427-10_427-6dup | |
| XM_017001506.2:c.1819-10_1819-6dup (ADAMTSL4) | XP_016856995.1:n.1819-10_1819-6dup | |
| XM_017001507.1:c.163-10_163-6dup (ADAMTSL4) | XP_016856996.1:n.163-10_163-6dup | |
| XR_001737242.2:n.1903-10_1903-6dup (ADAMTSL4) | ||
| XR_921844.3:n.2076-10_2076-6dup (ADAMTSL4) | ||
| NM_001288607.2:c.1819-10_1819-6dup (ADAMTSL4) | NP_001275536.1:n.1819-10_1819-6dup | |
| NM_025008.5:c.1750-10_1750-6dup (ADAMTSL4) | NP_079284.2:n.1750-10_1750-6dup | |
| NM_001288608.2:c.1819-10_1819-6dup (ADAMTSL4) | NP_001275537.1:n.1819-10_1819-6dup | |
| NM_001378596.1:c.1750-10_1750-6dup (ADAMTSL4) | NP_001365525.1:n.1750-10_1750-6dup | |
| NM_019032.6:c.1750-10_1750-6dup (ADAMTSL4) MANE Select | NP_061905.2:n.1750-10_1750-6dup |