Linked Data
gnomAD v2:
7-92148423-T-TAAAAAAA
MyVariant Identifiers:
chr7:g.92148423_92148424insAAAAAAA (hg19)
chr7:g.92519109_92519110insAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519110_92519116dup , CM000669.2:g.92519110_92519116dup | GRCh38 |
| NC_000007.13:g.92148424_92148430dup , CM000669.1:g.92148424_92148430dup | GRCh37 |
| NC_000007.12:g.91986360_91986366dup | NCBI36 |
| NG_008341.1:g.14416_14422dup | |
| NG_008341.2:g.14416_14422dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.274-38_274-32dup MANE Select | ENSP00000248633.4:n.274-38_274-32dup | |
| ENST00000248633.8:c.274-38_274-32dup | ENSP00000248633.4:n.274-38_274-32dup | |
| ENST00000428214.5:c.274-38_274-32dup | ENSP00000394413.1:n.274-38_274-32dup | |
| ENST00000438045.5:c.273+2986_273+2992dup | ENSP00000410438.1:n.273+2986_273+2992dup | |
| ENST00000484913.5:n.278-38_278-32dup | ||
| NM_000466.2:c.274-38_274-32dup | NP_000457.1:n.274-38_274-32dup | |
| NM_001282677.1:c.274-38_274-32dup | NP_001269606.1:n.274-38_274-32dup | |
| NM_001282678.1:c.-386-38_-386-32dup | NP_001269607.1:n.-386-38_-386-32dup | |
| XR_242246.3:n.370-38_370-32dup | ||
| XR_242246.5:n.321-38_321-32dup | ||
| NM_000466.3:c.274-38_274-32dup MANE Select | NP_000457.1:n.274-38_274-32dup | |
| NM_001282677.2:c.274-38_274-32dup | NP_001269606.1:n.274-38_274-32dup | |
| NM_001282678.2:c.-386-38_-386-32dup | NP_001269607.1:n.-386-38_-386-32dup |