Linked Data
dbSNP Id:
rs776566336
ExAC:
4:79832957 CAG / C
gnomAD v2:
4-79832957-CAG-C
gnomAD v4:
4-78911803-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911804_78911805del , CM000666.2:g.78911804_78911805del | GRCh38 |
| NC_000004.11:g.79832958_79832959del , CM000666.1:g.79832958_79832959del | GRCh37 |
| NC_000004.10:g.80051982_80051983del | NCBI36 |
| NG_047162.1:g.140427_140428del | |
| NG_053104.1:g.32634_32635del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3257_3258del (BMP2K) MANE Select | ENSP00000424668.2:p.Gln1086ArgfsTer8 | |
| ENST00000335016.9:c.3257_3258del (BMP2K) | ENSP00000334836.5:p.Gln1086ArgfsTer8 | |
| ENST00000342820.10:c.*782+3405_*782+3406del (PAQR3) | ENSP00000344203.6:n.*782+3405_*782+3406del | |
| ENST00000502613.1:c.2334_2335del (BMP2K) | ||
| ENST00000511594.5:c.*384_*385del (PAQR3) | ENSP00000425080.1:n.*384_*385del | |
| ENST00000512760.5:c.*792+3405_*792+3406del (PAQR3) | ENSP00000426875.1:n.*792+3405_*792+3406del | |
| ENST00000628286.1:c.*2233_*2234del (BMP2K) | ENSP00000487317.1:n.*2233_*2234del | |
| NM_198892.1:c.3257_3258del (BMP2K) | NP_942595.1:p.Gln1086ArgfsTer8 | |
| XM_005263117.1:c.3146_3147del (BMP2K) | XP_005263174.1:p.Gln1049ArgfsTer8 | |
| XM_011532101.1:c.3017_3018del (BMP2K) | XP_011530403.1:p.Gln1006ArgfsTer8 | |
| XR_938694.1:n.1118-5644_1118-5643del (PAQR3) | ||
| XM_017008381.1:c.3017_3018del (BMP2K) | XP_016863870.1:p.Gln1006ArgfsTer8 | |
| XM_017008382.1:c.2369_2370del (BMP2K) | XP_016863871.1:p.Gln790ArgfsTer8 | |
| XR_938694.3:n.1098-5644_1098-5643del (PAQR3) | ||
| NM_198892.2:c.3257_3258del (BMP2K) MANE Select | NP_942595.1:p.Gln1086ArgfsTer8 |