Linked Data
dbSNP Id:
rs1592867835
gnomAD v3:
12-110345445-TGTGTAG-T
gnomAD v4:
12-110345445-TGTGTAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110345446_110345451del , CM000674.2:g.110345446_110345451del | GRCh38 |
| NC_000012.11:g.110783251_110783256del , CM000674.1:g.110783251_110783256del | GRCh37 |
| NC_000012.10:g.109267634_109267639del | NCBI36 |
| NG_007097.2:g.68820_68825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539276.7:c.2741+64_2741+69del MANE Select | ENSP00000440045.2:n.2741+64_2741+69del | |
| ENST00000308664.10:c.2741+64_2741+69del | ENSP00000311186.6:n.2741+64_2741+69del | |
| ENST00000313432.5:n.10_15del | ||
| ENST00000377685.9:c.*2581+64_*2581+69del | ENSP00000366913.4:n.*2581+64_*2581+69del | |
| ENST00000539276.6:c.2741+64_2741+69del | ENSP00000440045.2:n.2741+64_2741+69del | |
| ENST00000548169.2:c.2412+64_2412+69del | ||
| NM_001681.3:c.2741+64_2741+69del | NP_001672.1:n.2741+64_2741+69del | |
| NM_170665.3:c.2741+64_2741+69del | NP_733765.1:n.2741+64_2741+69del | |
| XM_005253888.1:c.2741+64_2741+69del | XP_005253945.1:n.2741+64_2741+69del | |
| XM_011538402.1:c.2741+64_2741+69del | XP_011536704.1:n.2741+64_2741+69del | |
| XR_243009.1:n.2747+64_2747+69del | ||
| XM_005253888.3:c.2741+64_2741+69del | XP_005253945.1:n.2741+64_2741+69del | |
| XM_011538402.3:c.2741+64_2741+69del | XP_011536704.1:n.2741+64_2741+69del | |
| XR_002957329.1:n.2747+64_2747+69del | ||
| XR_243009.3:n.2747+64_2747+69del | ||
| NM_170665.4:c.2741+64_2741+69del MANE Select | NP_733765.1:n.2741+64_2741+69del | |
| NM_001681.4:c.2741+64_2741+69del | NP_001672.1:n.2741+64_2741+69del |