Linked Data
dbSNP Id:
rs926051218
gnomAD v2:
2-44073791-G-GC
gnomAD v3:
2-43846652-G-GC
gnomAD v4:
2-43846652-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43846653dup , CM000664.2:g.43846653dup | GRCh38 |
| NC_000002.11:g.44073792dup , CM000664.1:g.44073792dup | GRCh37 |
| NC_000002.10:g.43927296dup | NCBI36 |
| NG_008884.1:g.12690dup | |
| NG_008884.2:g.19712dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272286.4:c.322+342dup MANE Select | ENSP00000272286.2:n.322+342dup | |
| ENST00000643284.1:n.1121dup | ||
| ENST00000644611.1:c.334+342dup | ENSP00000495423.1:n.334+342dup | |
| ENST00000272286.2:c.322+342dup | ENSP00000272286.2:n.322+342dup | |
| NM_022437.2:c.322+342dup | NP_071882.1:n.322+342dup | |
| XM_005264483.2:c.322+342dup | XP_005264540.1:n.322+342dup | |
| XM_011533029.1:c.334+342dup | XP_011531331.1:n.334+342dup | |
| XM_011533030.1:c.334+342dup | XP_011531332.1:n.334+342dup | |
| XM_011533031.1:c.106+342dup | XP_011531333.1:n.106+342dup | |
| XR_939707.1:n.824+342dup | ||
| NM_001357321.1:c.322+342dup | NP_001344250.1:n.322+342dup | |
| XM_011533029.2:c.334+342dup | XP_011531331.1:n.334+342dup | |
| XM_011533030.2:c.334+342dup | XP_011531332.1:n.334+342dup | |
| XR_001738891.1:n.838+342dup | ||
| XR_939707.2:n.838+342dup | ||
| NM_022437.3:c.322+342dup MANE Select | NP_071882.1:n.322+342dup | |
| NM_001357321.2:c.322+342dup | NP_001344250.1:n.322+342dup |