Linked Data
dbSNP Id:
rs1393599562
gnomAD v3:
6-35823414-C-CATATATAT
gnomAD v4:
6-35823414-C-CATATATAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823415_35823416insTATATATA , CM000668.2:g.35823415_35823416insTATATATA | GRCh38 |
| NC_000006.11:g.35791192_35791193insTATATATA , CM000668.1:g.35791192_35791193insTATATATA | GRCh37 |
| NC_000006.10:g.35899170_35899171insTATATATA | NCBI36 |
| NG_012184.1:g.23122_23123insTATATATA | |
| NG_012184.2:g.23122_23123insTATATATA | |
| NG_012184.3:g.31210_31211insTATATATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*450_*451insTATATATA MANE Select | ENSP00000353346.1:n.*450_*451insTATATATA | |
| ENST00000496656.2:n.578+3595_578+3596insTATATATA | ||
| ENST00000651132.1:c.*450_*451insTATATATA | ENSP00000498322.1:n.*450_*451insTATATATA | |
| ENST00000651676.1:c.*16+3952_*16+3953insTATATATA | ENSP00000498699.1:n.*16+3952_*16+3953insTATATATA | |
| ENST00000651994.1:c.*530_*531insTATATATA | ENSP00000498310.1:n.*530_*531insTATATATA | |
| ENST00000652718.1:c.508+3952_508+3953insTATATATA | ENSP00000498866.1:n.508+3952_508+3953insTATATATA | |
| ENST00000360215.2:c.*450_*451insTATATATA | ENSP00000353346.1:n.*450_*451insTATATATA | |
| ENST00000496656.1:n.812+3595_812+3596insTATATATA | ||
| NM_182548.3:c.*450_*451insTATATATA | NP_872354.1:n.*450_*451insTATATATA | |
| NM_182548.4:c.*450_*451insTATATATA MANE Select | NP_872354.1:n.*450_*451insTATATATA |