MyVariant.info:
GRCh38
chr17:g.4934205_4934206del
GRCh38
chr17:g.4934204_4934205del
GRCh37
chr17:g.4837499_4837500del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002394 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00002083 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4934205_4934206del , CM000679.2:g.4934205_4934206del | GRCh38 |
| NC_000017.10:g.4837500_4837501del , CM000679.1:g.4837500_4837501del | GRCh37 |
| NC_000017.9:g.4778241_4778242del | NCBI36 |
| NG_008767.2:g.6911_6912del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1601_1602del (GP1BA) MANE Select | ENSP00000329380.5:p.Tyr534CysfsTer? | |
| ENST00000649830.1:c.-888+137_-888+138del (CHRNE) | ENSP00000496907.1:n.-888+137_-888+138del | |
| ENST00000329125.5:c.1601_1602del (GP1BA) | ENSP00000329380.5:p.Tyr534CysfsTer? | |
| ENST00000611961.1:c.1523_1524del (GP1BA) | ENSP00000484439.1:p.Tyr508CysfsTer? | |
| NM_000173.6:c.1601_1602del (GP1BA) | NP_000164.5:p.Tyr534CysfsTer? | |
| NM_000173.7:c.1601_1602del (GP1BA) MANE Select | NP_000164.5:p.Tyr534CysfsTer? |