Linked Data
gnomAD v4:
19-10115441-G-GGCAGGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115448_10115454dup , CM000681.2:g.10115448_10115454dup | GRCh38 |
| NC_000019.9:g.10226124_10226130dup , CM000681.1:g.10226124_10226130dup | GRCh37 |
| NC_000019.8:g.10087124_10087130dup | NCBI36 |
| NG_047007.1:g.8928_8934dup | |
| NG_051197.1:g.9477_9483dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+31_947+37dup MANE Select | ENSP00000253108.3:n.947+31_947+37dup | |
| ENST00000253108.8:c.947+31_947+37dup | ENSP00000253108.3:n.947+31_947+37dup | |
| ENST00000590158.1:n.966+31_966+37dup | ||
| ENST00000593054.5:c.341+31_341+37dup | ENSP00000467187.1:n.341+31_341+37dup | |
| NM_003755.3:c.947+31_947+37dup | NP_003746.2:n.947+31_947+37dup | |
| NM_003755.4:c.947+31_947+37dup | NP_003746.2:n.947+31_947+37dup | |
| NM_003755.5:c.947+31_947+37dup MANE Select | NP_003746.2:n.947+31_947+37dup |