Linked Data
dbSNP Id:
rs1564013537
gnomAD v2:
9-80919829-GTTCACCC-G
gnomAD v4:
9-78304913-GTTCACCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304915_78304921del , CM000671.2:g.78304915_78304921del | GRCh38 |
| NC_000009.11:g.80919831_80919837del , CM000671.1:g.80919831_80919837del | GRCh37 |
| NC_000009.10:g.80109651_80109657del | NCBI36 |
| NG_012165.1:g.12773_12779del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.372_378del MANE Select | ENSP00000365773.3:p.His125AsnfsTer? | |
| ENST00000347159.6:c.372_378del | ENSP00000317606.2:p.His125AsnfsTer? | |
| ENST00000376588.3:c.372_378del | ENSP00000365773.3:p.His125AsnfsTer? | |
| NM_021154.4:c.372_378del | NP_066977.1:p.His125AsnfsTer? | |
| NM_058179.3:c.372_378del | NP_478059.1:p.His125AsnfsTer? | |
| NM_058179.4:c.372_378del MANE Select | NP_478059.1:p.His125AsnfsTer? | |
| NM_021154.5:c.372_378del | NP_066977.1:p.His125AsnfsTer? |