Linked Data
dbSNP Id:
rs2016837986
gnomAD v3:
22-36299339-ATGGCTCC-A
gnomAD v4:
22-36299339-ATGGCTCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36299340_36299346del , CM000684.2:g.36299340_36299346del | GRCh38 |
| NC_000022.10:g.36695386_36695392del , CM000684.1:g.36695386_36695392del | GRCh37 |
| NC_000022.9:g.35025332_35025338del | NCBI36 |
| NG_011884.2:g.93673_93679del , LRG_567:g.93673_93679del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685801.1:c.3040-304_3040-298del | ENSP00000510688.1:n.3040-304_3040-298del | |
| ENST00000691109.1:n.3272-304_3272-298del | ||
| ENST00000216181.11:c.2977-304_2977-298del MANE Select | ENSP00000216181.6:n.2977-304_2977-298del | |
| ENST00000216181.9:c.2977-304_2977-298del | ENSP00000216181.5:n.2977-304_2977-298del | |
| NM_002473.5:c.2977-304_2977-298del , LRG_567t1:c.2977-304_2977-298del | NP_002464.1:n.2977-304_2977-298del | |
| XM_011530197.1:c.2977-304_2977-298del | XP_011528499.1:n.2977-304_2977-298del | |
| XM_011530197.2:c.2977-304_2977-298del | XP_011528499.1:n.2977-304_2977-298del | |
| XM_017028803.1:c.2977-304_2977-298del | XP_016884292.1:n.2977-304_2977-298del | |
| XM_017028804.1:c.2977-304_2977-298del | XP_016884293.1:n.2977-304_2977-298del | |
| XM_017028805.1:c.2977-304_2977-298del | XP_016884294.1:n.2977-304_2977-298del | |
| XM_017028806.1:c.2977-304_2977-298del | XP_016884295.1:n.2977-304_2977-298del | |
| NM_002473.6:c.2977-304_2977-298del MANE Select | NP_002464.1:n.2977-304_2977-298del |