Linked Data
dbSNP Id:
rs745893963
ExAC:
6:32149167 A / AC
gnomAD v2:
6-32149167-A-AC
gnomAD v4:
6-32181390-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181394dup , CM000668.2:g.32181394dup | GRCh38 |
| NC_000006.11:g.32149171dup , CM000668.1:g.32149171dup | GRCh37 |
| NC_000006.10:g.32257149dup | NCBI36 |
| NG_029868.1:g.7932dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375076.9:c.1078dup MANE Select | ENSP00000364217.4:p.Val360GlyfsTer? | |
| ENST00000375055.6:c.*29+133dup | ENSP00000364195.2:n.*29+133dup | |
| ENST00000375065.6:c.265dup | ENSP00000364206.6:p.Val89GlyfsTer? | |
| ENST00000375067.7:c.923dup | ENSP00000364208.3:p.His309SerfsTer29 | |
| ENST00000375069.7:c.1126dup | ENSP00000364210.4:p.Val376GlyfsTer? | |
| ENST00000375070.7:c.748dup | ENSP00000364211.4:p.Val250GlyfsTer? | |
| ENST00000375076.8:c.1078dup | ENSP00000364217.4:p.Val360GlyfsTer? | |
| ENST00000438221.6:c.*29+133dup | ENSP00000387887.2:n.*29+133dup | |
| ENST00000469940.5:n.245dup | ||
| ENST00000473619.5:n.620dup | ||
| ENST00000484849.5:n.1285dup | ||
| ENST00000488669.5:n.615+133dup | ||
| ENST00000620802.4:c.325dup | ENSP00000484081.1:p.Val109GlyfsTer? | |
| NM_001136.4:c.1078dup | NP_001127.1:p.Val360GlyfsTer? | |
| NM_001206929.1:c.1126dup | NP_001193858.1:p.Val376GlyfsTer? | |
| NM_001206932.1:c.1036dup | NP_001193861.1:p.Val346GlyfsTer? | |
| NM_001206934.1:c.*29+133dup | NP_001193863.1:n.*29+133dup | |
| NM_001206936.1:c.1021+133dup | NP_001193865.1:n.1021+133dup | |
| NM_001206940.1:c.*29+133dup | NP_001193869.1:n.*29+133dup | |
| NM_001206954.1:c.931+133dup | NP_001193883.1:n.931+133dup | |
| NM_001206966.1:c.*29+133dup | NP_001193895.1:n.*29+133dup | |
| NM_172197.2:c.923dup | NP_751947.1:p.His309SerfsTer29 | |
| NR_038190.1:n.1361dup | ||
| XM_017010328.2:c.1072+133dup | XP_016865817.1:n.1072+133dup | |
| XR_001743189.2:n.1142dup | ||
| XR_001743190.2:n.1094dup | ||
| NM_001136.5:c.1078dup MANE Select | NP_001127.1:p.Val360GlyfsTer? | |
| NM_001206932.2:c.1036dup | NP_001193861.1:p.Val346GlyfsTer? | |
| NM_001206936.2:c.1021+133dup | NP_001193865.1:n.1021+133dup | |
| NM_001206940.2:c.*29+133dup | NP_001193869.1:n.*29+133dup | |
| NM_001206954.2:c.931+133dup | NP_001193883.1:n.931+133dup | |
| NM_001206966.2:c.*29+133dup | NP_001193895.1:n.*29+133dup | |
| NM_172197.3:c.923dup | NP_751947.1:p.His309SerfsTer29 | |
| NR_038190.2:n.1292dup | ||
| NM_001206929.2:c.1126dup | NP_001193858.1:p.Val376GlyfsTer? | |
| NM_001206934.2:c.*29+133dup | NP_001193863.1:n.*29+133dup |