Linked Data
dbSNP Id:
rs1436282899
gnomAD v2:
11-111957607-ATG-A
gnomAD v3:
11-112086883-ATG-A
gnomAD v4:
11-112086883-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112086884_112086885del , CM000673.2:g.112086884_112086885del | GRCh38 |
| NC_000011.9:g.111957608_111957609del , CM000673.1:g.111957608_111957609del | GRCh37 |
| NC_000011.8:g.111462818_111462819del | NCBI36 |
| NG_012337.2:g.5038_5039del | |
| NG_033145.1:g.4914_4915del | |
| NG_012337.3:g.5038_5039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.-24_-23del | ENSP00000432946.2:n.-24_-23del | |
| ENST00000534010.2:c.-24_-23del | ENSP00000433202.2:n.-24_-23del | |
| ENST00000375549.8:c.-24_-23del MANE Select | ENSP00000364699.3:n.-24_-23del | |
| ENST00000528021.6:c.-24_-23del | ENSP00000432465.1:n.-24_-23del | |
| ENST00000640554.1:c.-24_-23del | ENSP00000491141.1:n.-24_-23del | |
| ENST00000375549.7:c.-24_-23del | ENSP00000364699.3:n.-24_-23del | |
| ENST00000528021.5:c.-24_-23del | ENSP00000432465.1:n.-24_-23del | |
| ENST00000528048.5:c.-24_-23del | ENSP00000436217.1:n.-24_-23del | |
| ENST00000528182.5:c.-24_-23del | ENSP00000435475.1:n.-24_-23del | |
| ENST00000614349.4:c.-24_-23del | ENSP00000480666.1:n.-24_-23del | |
| NM_001276503.1:c.-24_-23del | NP_001263432.1:n.-24_-23del | |
| NM_001276504.1:c.-24_-23del | NP_001263433.1:n.-24_-23del | |
| NM_001276506.1:c.-24_-23del | NP_001263435.1:n.-24_-23del | |
| NM_003002.3:c.-24_-23del | NP_002993.1:n.-24_-23del | |
| NR_077060.1:n.61_62del | ||
| NM_003002.4:c.-24_-23del MANE Select | NP_002993.1:n.-24_-23del | |
| NM_001276503.2:c.-24_-23del | NP_001263432.1:n.-24_-23del | |
| NM_001276504.2:c.-24_-23del | NP_001263433.1:n.-24_-23del | |
| NM_001276506.2:c.-24_-23del | NP_001263435.1:n.-24_-23del | |
| NR_077060.2:n.12_13del |