Linked Data
gnomAD v4:
1-15445676-G-GGCGGGGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445679_15445686dup , CM000663.2:g.15445679_15445686dup | GRCh38 |
| NC_000001.10:g.15772174_15772181dup , CM000663.1:g.15772174_15772181dup | GRCh37 |
| NC_000001.9:g.15644761_15644768dup | NCBI36 |
| NG_009253.1:g.12237_12244dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.722_729dup MANE Select | ENSP00000365116.4:p.Asn244GlyfsTer10 | |
| ENST00000375943.6:c.*176_*183dup | ENSP00000365110.2:n.*176_*183dup | |
| ENST00000375949.4:c.722_729dup | ENSP00000365116.4:p.Asn244GlyfsTer10 | |
| ENST00000483406.1:n.486_493dup | ||
| NM_007272.2:c.722_729dup | NP_009203.2:p.Asn244GlyfsTer10 | |
| XM_011540550.1:c.576_583dup | XP_011538852.1:p.Gln195ArgfsTer29 | |
| NM_007272.3:c.722_729dup MANE Select | NP_009203.2:p.Asn244GlyfsTer10 |