Linked Data
dbSNP Id:
rs515726148
gnomAD v2:
19-45412048-GCTC-G
gnomAD v3:
19-44908791-GCTC-G
gnomAD v4:
19-44908791-GCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908796_44908798del , CM000681.2:g.44908796_44908798del | GRCh38 |
| NC_000019.9:g.45412053_45412055del , CM000681.1:g.45412053_45412055del | GRCh37 |
| NC_000019.8:g.50103893_50103895del | NCBI36 |
| NG_007084.2:g.8015_8017del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.500_502del MANE Select | ENSP00000252486.3:p.Leu167del | |
| ENST00000252486.8:c.500_502del | ENSP00000252486.3:p.Leu167del | |
| ENST00000425718.1:c.500_502del | ENSP00000410423.1:p.Leu167del | |
| ENST00000434152.5:c.578_580del | ENSP00000413653.2:p.Leu193del | |
| ENST00000446996.5:c.500_502del | ENSP00000413135.1:p.Leu167del | |
| NM_000041.3:c.500_502del | NP_000032.1:p.Leu167del | |
| NM_001302688.1:c.578_580del | NP_001289617.1:p.Leu193del | |
| NM_001302689.1:c.500_502del | NP_001289618.1:p.Leu167del | |
| NM_001302690.1:c.500_502del | NP_001289619.1:p.Leu167del | |
| NM_001302691.1:c.500_502del | NP_001289620.1:p.Leu167del | |
| NM_000041.4:c.500_502del MANE Select | NP_000032.1:p.Leu167del | |
| NM_001302688.2:c.578_580del | NP_001289617.1:p.Leu193del | |
| NM_001302689.2:c.500_502del | NP_001289618.1:p.Leu167del | |
| NM_001302691.2:c.500_502del | NP_001289620.1:p.Leu167del | |
| NM_001302690.2:c.500_502del | NP_001289619.1:p.Leu167del |