Linked Data
ClinVar Variation Id:
1073986
dbSNP Id:
rs2077596325
gnomAD v4:
2-135798028-CCGAGACTTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135798029_135798038del , CM000664.2:g.135798029_135798038del | GRCh38 |
| NC_000002.11:g.136555599_136555608del , CM000664.1:g.136555599_136555608del | GRCh37 |
| NC_000002.10:g.136272069_136272078del | NCBI36 |
| NG_008104.2:g.62132_62141del , LRG_338:g.62132_62141del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.4967_4976del MANE Select | ENSP00000264162.2:p.Asn1656SerfsTer? | |
| ENST00000264162.6:c.4967_4976del | ENSP00000264162.2:p.Asn1656SerfsTer? | |
| ENST00000452974.1:c.3060_3069del | ENSP00000391231.1:n.3060_3069del | |
| NM_002299.2:c.4967_4976del , LRG_338t1:c.4967_4976del | NP_002290.2:p.Asn1656SerfsTer? | |
| NM_002299.3:c.4967_4976del | NP_002290.2:p.Asn1656SerfsTer? | |
| XM_017004088.2:c.4967_4976del | XP_016859577.1:p.Asn1656SerfsTer? | |
| NM_002299.4:c.4967_4976del MANE Select | NP_002290.2:p.Asn1656SerfsTer? |