Linked Data
dbSNP Id:
rs1221435279
gnomAD v2:
12-103310978-GT-G
gnomAD v3:
12-102917200-GT-G
gnomAD v4:
12-102917200-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917201del , CM000674.2:g.102917201del | GRCh38 |
| NC_000012.11:g.103310979del , CM000674.1:g.103310979del | GRCh37 |
| NC_000012.10:g.101835109del | NCBI36 |
| NG_008690.1:g.5402del | |
| NG_008690.2:g.46210del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.-71del MANE Select | ENSP00000448059.1:n.-71del | |
| ENST00000307000.7:c.-218del | ENSP00000303500.2:n.-218del | |
| ENST00000546708.5:n.517del | ||
| ENST00000546844.1:c.-71del | ENSP00000446658.1:n.-71del | |
| ENST00000547319.1:n.241del | ||
| ENST00000549111.5:n.26del | ||
| ENST00000551337.5:c.-71del | ENSP00000447620.1:n.-71del | |
| ENST00000551988.5:n.19del | ||
| ENST00000553106.5:c.-71del | ENSP00000448059.1:n.-71del | |
| ENST00000635500.1:n.29-4303del | ||
| NM_000277.1:c.-71del | NP_000268.1:n.-71del | |
| XM_011538422.1:c.-71del | XP_011536724.1:n.-71del | |
| NM_000277.2:c.-71del | NP_000268.1:n.-71del | |
| NM_001354304.1:c.-71del | NP_001341233.1:n.-71del | |
| XM_017019370.2:c.-71del | XP_016874859.1:n.-71del | |
| NM_000277.3:c.-71del MANE Select | NP_000268.1:n.-71del | |
| NM_001354304.2:c.-71del | NP_001341233.1:n.-71del |