ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011605_21011608del , CM000664.2:g.21011605_21011608del | GRCh38 |
| NC_000002.11:g.21234477_21234480del , CM000664.1:g.21234477_21234480del | GRCh37 |
| NC_000002.10:g.21087982_21087985del | NCBI36 |
| NG_011793.1:g.37469_37472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*4569_*4572del | ENSP00000501110.2:n.*4569_*4572del | |
| ENST00000673739.1:c.4977_4980del | ENSP00000501110.1:n.4977_4980del | |
| ENST00000233242.5:c.5263_5266del MANE Select | ENSP00000233242.1:p.Asn1755ValfsTer2 | |
| ENST00000616098.4:c.5263_5266del | ENSP00000477990.1:p.Asn1755ValfsTer2 | |
| NM_000384.2:c.5263_5266del | NP_000375.2:p.Asn1755ValfsTer2 | |
| XM_011532809.1:c.5263_5266del | XP_011531111.1:p.Asn1755ValfsTer2 | |
| NM_000384.3:c.5263_5266del MANE Select | NP_000375.3:p.Asn1755ValfsTer2 |