MyVariant.info:
GRCh38
chr9:g.6604644dupA
GRCh38
chr9:g.6604643_6604644insA
GRCh37
chr9:g.6604644dupA
GRCh37
chr9:g.6604643_6604644insA
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604649dup , CM000671.2:g.6604649dup | GRCh38 |
| NC_000009.11:g.6604649dup , CM000671.1:g.6604649dup | GRCh37 |
| NC_000009.10:g.6594649dup | NCBI36 |
| NG_016397.1:g.46049dup , LRG_643:g.46049dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1002dup MANE Select | ENSP00000370737.4:p.Ala335CysfsTer? | |
| ENST00000638654.1:c.249dup | ENSP00000491101.1:p.Ala84CysfsTer? | |
| ENST00000639364.1:n.702dup | ||
| ENST00000639443.1:n.570dup | ||
| ENST00000639493.1:n.154dup | ||
| ENST00000639954.1:n.710dup | ||
| ENST00000640592.1:n.885dup | ||
| ENST00000321612.6:c.1002dup | ENSP00000370737.3:p.Ala335CysfsTer? | |
| ENST00000463305.1:n.142+487dup | ||
| NM_000170.2:c.1002dup , LRG_643t1:c.1002dup | NP_000161.2:p.Ala335CysfsTer? | |
| NM_000170.3:c.1002dup MANE Select | NP_000161.2:p.Ala335CysfsTer? |