Linked Data
dbSNP Id:
rs775579198
ExAC:
4:79832528 TCAA / T
gnomAD v2:
4-79832528-TCAA-T
gnomAD v4:
4-78911374-TCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911378_78911380del , CM000666.2:g.78911378_78911380del | GRCh38 |
| NC_000004.11:g.79832532_79832534del , CM000666.1:g.79832532_79832534del | GRCh37 |
| NC_000004.10:g.80051556_80051558del | NCBI36 |
| NG_047162.1:g.140001_140003del | |
| NG_053104.1:g.33062_33064del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2831_2833del (BMP2K) MANE Select | ENSP00000424668.2:p.Thr944del | |
| ENST00000335016.9:c.2831_2833del (BMP2K) | ENSP00000334836.5:p.Thr944del | |
| ENST00000342820.10:c.*782+3833_*782+3835del (PAQR3) | ENSP00000344203.6:n.*782+3833_*782+3835del | |
| ENST00000502613.1:c.1908_1910del (BMP2K) | ||
| ENST00000511594.5:c.*812_*814del (PAQR3) | ENSP00000425080.1:n.*812_*814del | |
| ENST00000512760.5:c.*792+3833_*792+3835del (PAQR3) | ENSP00000426875.1:n.*792+3833_*792+3835del | |
| ENST00000628286.1:c.*1807_*1809del (BMP2K) | ENSP00000487317.1:n.*1807_*1809del | |
| NM_198892.1:c.2831_2833del (BMP2K) | NP_942595.1:p.Thr944del | |
| XM_005263117.1:c.2720_2722del (BMP2K) | XP_005263174.1:p.Thr907del | |
| XM_011532101.1:c.2591_2593del (BMP2K) | XP_011530403.1:p.Thr864del | |
| XR_938694.1:n.1118-5216_1118-5214del (PAQR3) | ||
| XM_017008381.1:c.2591_2593del (BMP2K) | XP_016863870.1:p.Thr864del | |
| XM_017008382.1:c.1943_1945del (BMP2K) | XP_016863871.1:p.Thr648del | |
| XR_938694.3:n.1098-5216_1098-5214del (PAQR3) | ||
| NM_198892.2:c.2831_2833del (BMP2K) MANE Select | NP_942595.1:p.Thr944del |