Linked Data
dbSNP Id:
rs1202271194
gnomAD v2:
5-150480412-A-AAAT
gnomAD v4:
5-151100851-A-AAAT
MyVariant Identifiers:
chr5:g.150480412_150480413insAAT (hg19)
chr5:g.151100851_151100852insAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151100853_151100855dup , CM000667.2:g.151100853_151100855dup | GRCh38 |
| NC_000005.9:g.150480414_150480416dup , CM000667.1:g.150480414_150480416dup | GRCh37 |
| NC_000005.8:g.150460607_150460609dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354546.10:c.*594_*596dup MANE Select | ENSP00000346550.5:n.*594_*596dup | |
| ENST00000522664.5:c.309_311dup | ||
| NM_001155.4:c.*594_*596dup | NP_001146.2:n.*594_*596dup | |
| NM_001193544.1:c.*594_*596dup | NP_001180473.1:n.*594_*596dup | |
| NM_001363114.1:c.*594_*596dup | NP_001350043.1:n.*594_*596dup | |
| NM_001155.5:c.*594_*596dup MANE Select | NP_001146.2:n.*594_*596dup | |
| NM_001193544.2:c.*594_*596dup | NP_001180473.1:n.*594_*596dup | |
| NM_001363114.2:c.*594_*596dup | NP_001350043.1:n.*594_*596dup |