Linked Data
gnomAD v4:
18-31541195-GTACCACTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541199_31541207del , CM000680.2:g.31541199_31541207del | GRCh38 |
| NC_000018.9:g.29121162_29121170del , CM000680.1:g.29121162_29121170del | GRCh37 |
| NC_000018.8:g.27375160_27375168del | NCBI36 |
| NG_007072.3:g.47958_47966del , LRG_397:g.47958_47966del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1886_1894del MANE Select | ENSP00000261590.8:p.Pro629_Leu631del | |
| ENST00000261590.12:c.1886_1894del | ENSP00000261590.8:p.Pro629_Leu631del | |
| NM_001943.3:c.1886_1894del , LRG_397t1:c.1886_1894del | NP_001934.2:p.Pro629_Leu631del | |
| NM_001943.4:c.1886_1894del | NP_001934.2:p.Pro629_Leu631del | |
| XM_024451095.1:c.1352_1360del | XP_024306863.1:p.Pro451_Leu453del | |
| NM_001943.5:c.1886_1894del MANE Select | NP_001934.2:p.Pro629_Leu631del |