Linked Data
dbSNP Id:
rs1665577302
gnomAD v3:
2-26482717-ATGCGTGTGTGAGTGGATGCATGTG-A
gnomAD v4:
2-26482717-ATGCGTGTGTGAGTGGATGCATGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482733_26482756del , CM000664.2:g.26482733_26482756del | GRCh38 |
| NC_000002.11:g.26705601_26705624del , CM000664.1:g.26705601_26705624del | GRCh37 |
| NC_000002.10:g.26559105_26559128del | NCBI36 |
| NG_009937.1:g.80958_80981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1393-149_1393-126del MANE Select | ENSP00000272371.2:n.1393-149_1393-126del | |
| ENST00000272371.6:c.1393-149_1393-126del | ENSP00000272371.2:n.1393-149_1393-126del | |
| ENST00000403946.7:c.1393-149_1393-126del | ENSP00000385255.3:n.1393-149_1393-126del | |
| NM_001287489.1:c.1393-149_1393-126del | NP_001274418.1:n.1393-149_1393-126del | |
| NM_194248.2:c.1393-149_1393-126del | NP_919224.1:n.1393-149_1393-126del | |
| XM_005264644.2:c.1438-149_1438-126del | XP_005264701.1:n.1438-149_1438-126del | |
| XM_011533185.1:c.1438-149_1438-126del | XP_011531487.1:n.1438-149_1438-126del | |
| XM_017005338.1:c.1393-149_1393-126del | XP_016860827.1:n.1393-149_1393-126del | |
| NM_001287489.2:c.1393-149_1393-126del | NP_001274418.1:n.1393-149_1393-126del | |
| NM_194248.3:c.1393-149_1393-126del MANE Select | NP_919224.1:n.1393-149_1393-126del |