Linked Data
dbSNP Id:
rs775042857
ExAC:
1:6531033 GGCAC / G
gnomAD v2:
1-6531033-GGCAC-G
gnomAD v3:
1-6470973-GGCAC-G
gnomAD v4:
1-6470973-GGCAC-G
MyVariant Identifiers:
chr1:g.6531034_6531037del (hg19)
chr1:g.6470975_6470978del (hg38)
chr1:g.6470974_6470977del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6470976_6470979del , CM000663.2:g.6470976_6470979del | GRCh38 |
| NC_000001.10:g.6531036_6531039del , CM000663.1:g.6531036_6531039del | GRCh37 |
| NC_000001.9:g.6453623_6453626del | NCBI36 |
| NG_007978.1:g.54033_54036del , LRG_262:g.54033_54036del | |
| NG_029910.1:g.219_222del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.1392+13_1392+16del | ENSP00000344570.5:n.1392+13_1392+16del | |
| ENST00000377728.8:c.1392+13_1392+16del MANE Select | ENSP00000366957.3:n.1392+13_1392+16del | |
| ENST00000377740.5:c.1392+13_1392+16del | ENSP00000366969.4:n.1392+13_1392+16del | |
| ENST00000377748.6:c.1566+13_1566+16del | ENSP00000366977.2:n.1566+13_1566+16del | |
| ENST00000400913.6:c.1392+13_1392+16del | ENSP00000383704.1:n.1392+13_1392+16del | |
| ENST00000400915.8:c.1503+13_1503+16del | ENSP00000383706.4:n.1503+13_1503+16del | |
| ENST00000489097.6:n.1868+13_1868+16del | ||
| ENST00000535355.6:c.1599+13_1599+16del | ENSP00000441445.1:n.1599+13_1599+16del | |
| ENST00000537245.6:c.1503+13_1503+16del | ENSP00000439625.2:n.1503+13_1503+16del | |
| ENST00000673471.2:c.1689+13_1689+16del | ENSP00000500749.1:n.1689+13_1689+16del | |
| ENST00000674685.1:n.425+13_425+16del | ||
| ENST00000674790.1:c.*1604+13_*1604+16del | ENSP00000502815.1:n.*1604+13_*1604+16del | |
| ENST00000675123.1:c.1392+13_1392+16del | ENSP00000502132.1:n.1392+13_1392+16del | |
| ENST00000675548.1:c.*1220+13_*1220+16del | ENSP00000502684.1:n.*1220+13_*1220+16del | |
| ENST00000675694.1:c.1392+13_1392+16del | ENSP00000501925.1:n.1392+13_1392+16del | |
| ENST00000340850.9:c.1392+13_1392+16del | ENSP00000344570.5:n.1392+13_1392+16del | |
| ENST00000377725.5:c.1392+13_1392+16del | ENSP00000366954.1:n.1392+13_1392+16del | |
| ENST00000377728.7:c.1392+13_1392+16del | ENSP00000366957.3:n.1392+13_1392+16del | |
| ENST00000377732.5:c.1503+13_1503+16del | ENSP00000366961.1:n.1503+13_1503+16del | |
| ENST00000377740.4:c.1623+13_1623+16del | ENSP00000366969.3:n.1623+13_1623+16del | |
| ENST00000377748.5:c.1623+13_1623+16del | ENSP00000366977.1:n.1623+13_1623+16del | |
| ENST00000400913.5:c.1392+13_1392+16del | ENSP00000383704.1:n.1392+13_1392+16del | |
| ENST00000400915.7:c.1560+13_1560+16del | ENSP00000383706.3:n.1560+13_1560+16del | |
| ENST00000487949.4:n.594+13_594+16del | ||
| ENST00000489097.5:n.1868+13_1868+16del | ||
| ENST00000535355.5:c.1599+13_1599+16del | ENSP00000441445.1:n.1599+13_1599+16del | |
| ENST00000537245.5:c.1629+13_1629+16del | ENSP00000439625.1:n.1629+13_1629+16del | |
| NM_001042663.1:c.1560+13_1560+16del | NP_001036128.1:n.1560+13_1560+16del | |
| NM_001042664.1:c.1392+13_1392+16del | NP_001036129.1:n.1392+13_1392+16del | |
| NM_001042665.1:c.1392+13_1392+16del | NP_001036130.1:n.1392+13_1392+16del | |
| NM_001265592.1:c.1629+13_1629+16del | NP_001252521.1:n.1629+13_1629+16del | |
| NM_001265593.1:c.1599+13_1599+16del | NP_001252522.1:n.1599+13_1599+16del | |
| NM_001265594.1:c.1392+13_1392+16del | NP_001252523.1:n.1392+13_1392+16del | |
| NM_020631.4:c.1392+13_1392+16del | NP_065682.2:n.1392+13_1392+16del | |
| NM_198681.3:c.1623+13_1623+16del | NP_941374.2:n.1623+13_1623+16del | |
| NM_001042663.2:c.1560+13_1560+16del | NP_001036128.1:n.1560+13_1560+16del | |
| NM_001265594.2:c.1392+13_1392+16del | NP_001252523.1:n.1392+13_1392+16del | |
| NM_020631.5:c.1392+13_1392+16del | NP_065682.2:n.1392+13_1392+16del | |
| NM_001042663.3:c.1503+13_1503+16del | NP_001036128.2:n.1503+13_1503+16del | |
| NM_001265592.2:c.1503+13_1503+16del | NP_001252521.2:n.1503+13_1503+16del | |
| NM_020631.6:c.1392+13_1392+16del MANE Select | NP_065682.2:n.1392+13_1392+16del | |
| NM_198681.4:c.1392+13_1392+16del | NP_941374.3:n.1392+13_1392+16del |