Linked Data
dbSNP Id:
rs1309008044
gnomAD v3:
1-169554998-A-ATTC
gnomAD v4:
1-169554998-A-ATTC
MyVariant Identifiers:
chr1:g.169524236_169524237insTTC (hg19)
chr1:g.169554998_169554999insTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555000_169555001insCTT , CM000663.2:g.169555000_169555001insCTT | GRCh38 |
| NC_000001.10:g.169524238_169524239insCTT , CM000663.1:g.169524238_169524239insCTT | GRCh37 |
| NC_000001.9:g.167790862_167790863insCTT | NCBI36 |
| NG_011806.1:g.36533_36534insGAA , LRG_553:g.36533_36534insGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1118+183_1118+184insGAA MANE Select | ENSP00000356771.3:n.1118+183_1118+184insGAA | |
| ENST00000367796.3:c.1118+183_1118+184insGAA | ENSP00000356770.3:n.1118+183_1118+184insGAA | |
| ENST00000367797.7:c.1118+183_1118+184insGAA | ENSP00000356771.3:n.1118+183_1118+184insGAA | |
| NM_000130.4:c.1118+183_1118+184insGAA , LRG_553t1:c.1118+183_1118+184insGAA | NP_000121.2:n.1118+183_1118+184insGAA | |
| XM_017000660.2:c.707+183_707+184insGAA | XP_016856149.1:n.707+183_707+184insGAA | |
| NM_000130.5:c.1118+183_1118+184insGAA MANE Select | NP_000121.2:n.1118+183_1118+184insGAA |