MyVariant.info:
GRCh38
chr9:g.12702414_12702417del
GRCh38
chr9:g.12702411_12702414del
GRCh37
chr9:g.12702414_12702417del
GRCh37
chr9:g.12702411_12702414del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010062 (SAS)
Genomes Max Group AF
0.00004767 (NFE)
Exomes Max Group AF
0.00009793 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702414_12702417del , CM000671.2:g.12702414_12702417del | GRCh38 |
| NC_000009.11:g.12702414_12702417del , CM000671.1:g.12702414_12702417del | GRCh37 |
| NC_000009.10:g.12692414_12692417del | NCBI36 |
| NG_011705.1:g.14029_14032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1057_1060del (TYRP1) MANE Select | ENSP00000373570.4:p.Asn353ValfsTer? | |
| ENST00000381136.2:c.187_190del (TYRP1) | ENSP00000370528.2:p.Asn63ValfsTer? | |
| ENST00000381142.3:n.294_297del (TYRP1) | ||
| ENST00000388918.9:c.1057_1060del (TYRP1) | ENSP00000373570.4:p.Asn353ValfsTer? | |
| ENST00000470909.1:n.315_318del (TYRP1) | ||
| NM_000550.2:c.1057_1060del (TYRP1) | NP_000541.1:p.Asn353ValfsTer? | |
| NR_125775.1:n.317-1788_317-1785del (LURAP1L-AS1) | ||
| XR_001746372.2:n.1041_1044del (TYRP1) | ||
| NM_000550.3:c.1057_1060del (TYRP1) MANE Select | NP_000541.1:p.Asn353ValfsTer? |