Linked Data
dbSNP Id:
rs1708211500
gnomAD v3:
1-15445875-T-TATTCACTCATTCATGCATTC
gnomAD v4:
1-15445875-T-TATTCACTCATTCATGCATTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445881_15445900dup , CM000663.2:g.15445881_15445900dup | GRCh38 |
| NC_000001.10:g.15772376_15772395dup , CM000663.1:g.15772376_15772395dup | GRCh37 |
| NC_000001.9:g.15644963_15644982dup | NCBI36 |
| NG_009253.1:g.12439_12458dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+132_792+151dup MANE Select | ENSP00000365116.4:n.792+132_792+151dup | |
| ENST00000375943.6:c.*246+132_*246+151dup | ENSP00000365110.2:n.*246+132_*246+151dup | |
| ENST00000375949.4:c.792+132_792+151dup | ENSP00000365116.4:n.792+132_792+151dup | |
| ENST00000483406.1:n.556+132_556+151dup | ||
| NM_007272.2:c.792+132_792+151dup | NP_009203.2:n.792+132_792+151dup | |
| XM_011540550.1:c.646+132_646+151dup | XP_011538852.1:n.646+132_646+151dup | |
| NM_007272.3:c.792+132_792+151dup MANE Select | NP_009203.2:n.792+132_792+151dup |