Linked Data
dbSNP Id:
rs1748976895
gnomAD v3:
5-54004991-CTTTTTCT-C
gnomAD v4:
5-54004991-CTTTTTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54005002_54005008del , CM000667.2:g.54005002_54005008del | GRCh38 |
| NC_000005.9:g.53300832_53300838del , CM000667.1:g.53300832_53300838del | GRCh37 |
| NC_000005.8:g.53336589_53336595del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504924.6:c.462+108204_462+108210del MANE Select | ENSP00000433427.1:n.462+108204_462+108210del | |
| ENST00000502271.5:c.-76+108204_-76+108210del | ENSP00000473508.1:n.-76+108204_-76+108210del | |
| ENST00000504924.5:c.462+108204_462+108210del | ENSP00000433427.1:n.462+108204_462+108210del | |
| ENST00000507646.2:c.462+108204_462+108210del | ENSP00000432680.1:n.462+108204_462+108210del | |
| ENST00000510591.6:n.535+108204_535+108210del | ||
| ENST00000620747.4:c.468+62164_468+62170del | ENSP00000478984.1:n.468+62164_468+62170del | |
| NM_019087.2:c.462+108204_462+108210del | NP_061960.1:n.462+108204_462+108210del | |
| XM_011543498.1:c.645+108204_645+108210del | XP_011541800.1:n.645+108204_645+108210del | |
| XM_011543499.1:c.588+108204_588+108210del | XP_011541801.1:n.588+108204_588+108210del | |
| XM_011543500.1:c.519+108204_519+108210del | XP_011541802.1:n.519+108204_519+108210del | |
| XM_011543498.2:c.645+108204_645+108210del | XP_011541800.1:n.645+108204_645+108210del | |
| XM_011543499.2:c.588+108204_588+108210del | XP_011541801.1:n.588+108204_588+108210del | |
| XM_011543500.2:c.519+108204_519+108210del | XP_011541802.1:n.519+108204_519+108210del | |
| XM_017009598.1:c.468+108204_468+108210del | XP_016865087.1:n.468+108204_468+108210del | |
| NM_019087.3:c.462+108204_462+108210del MANE Select | NP_061960.1:n.462+108204_462+108210del |