Linked Data
dbSNP Id:
rs1366990217
gnomAD v2:
12-6442292-A-ACGGTGTTCTGTTTCTCCTG
gnomAD v4:
12-6333126-A-ACGGTGTTCTGTTTCTCCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333127_6333145dup , CM000674.2:g.6333127_6333145dup | GRCh38 |
| NC_000012.11:g.6442293_6442311dup , CM000674.1:g.6442293_6442311dup | GRCh37 |
| NC_000012.10:g.6312554_6312572dup | NCBI36 |
| NG_007506.1:g.13951_13969dup , LRG_193:g.13951_13969dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.509_527dup | ||
| ENST00000437813.8:c.475_493dup | ENSP00000513672.1:p.Val165AlafsTer25 | |
| ENST00000440083.7:c.694_712dup | ENSP00000413224.3:p.Val238AlafsTer25 | |
| ENST00000535958.2:c.*302_*320dup | ENSP00000513673.1:n.*302_*320dup | |
| ENST00000698339.1:c.475_493dup | ENSP00000513670.1:p.Val165AlafsTer25 | |
| ENST00000698340.1:c.475_493dup | ENSP00000513671.1:p.Val165AlafsTer25 | |
| ENST00000162749.7:c.475_493dup MANE Select | ENSP00000162749.2:p.Val165AlafsTer25 | |
| ENST00000162749.6:c.475_493dup | ENSP00000162749.2:p.Val165AlafsTer25 | |
| ENST00000366159.8:c.475_493dup | ENSP00000380389.3:p.Val165AlafsTer25 | |
| ENST00000437813.7:n.436_454dup | ||
| ENST00000440083.6:c.694_712dup | ENSP00000413224.2:p.Val238AlafsTer? | |
| ENST00000534885.5:c.321_339dup | ENSP00000441803.1:p.Cys114GlnfsTer? | |
| ENST00000537842.5:n.79_97dup | ||
| ENST00000539372.5:c.475_493dup | ENSP00000442059.1:p.Val165AlafsTer25 | |
| ENST00000540022.5:c.346_364dup | ENSP00000438343.1:p.Val122AlafsTer25 | |
| ENST00000543048.5:c.*86_*104dup | ENSP00000439981.1:n.*86_*104dup | |
| ENST00000543995.5:c.*62_*80dup | ENSP00000442405.1:n.*62_*80dup | |
| NM_001065.3:c.475_493dup , LRG_193t1:c.475_493dup | NP_001056.1:p.Val165AlafsTer25 | |
| NM_001346091.1:c.151_169dup | NP_001333020.1:p.Val57AlafsTer25 | |
| NM_001346092.1:c.-103_-85dup | NP_001333021.1:n.-103_-85dup | |
| NR_144351.1:n.778_796dup | ||
| NM_001065.4:c.475_493dup MANE Select | NP_001056.1:p.Val165AlafsTer25 | |
| NM_001346091.2:c.151_169dup | NP_001333020.1:p.Val57AlafsTer25 | |
| NM_001346092.2:c.-103_-85dup | NP_001333021.1:n.-103_-85dup | |
| NR_144351.2:n.737_755dup |