Linked Data
dbSNP Id:
rs759980555
ExAC:
21:27269953 TCTC / T
gnomAD v2:
21-27269953-TCTC-T
gnomAD v4:
21-25897641-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25897646_25897648del , CM000683.2:g.25897646_25897648del | GRCh38 |
| NC_000021.8:g.27269958_27269960del , CM000683.1:g.27269958_27269960del | GRCh37 |
| NC_000021.7:g.26191829_26191831del | NCBI36 |
| NG_007376.1:g.278177_278179del | |
| NG_007376.2:g.278485_278487del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.1960_1962del | ||
| ENST00000707133.1:n.390_392del | ||
| ENST00000707134.1:n.659_661del | ||
| ENST00000346798.8:c.1993_1995del MANE Select | ENSP00000284981.4:p.Glu665del | |
| ENST00000346798.7:c.1993_1995del | ENSP00000284981.4:p.Glu665del | |
| ENST00000348990.9:c.1768_1770del | ENSP00000345463.5:p.Glu590del | |
| ENST00000354192.7:c.1600_1602del | ENSP00000346129.3:p.Glu534del | |
| ENST00000357903.7:c.1936_1938del | ENSP00000350578.3:p.Glu646del | |
| ENST00000358918.7:c.1939_1941del | ENSP00000351796.3:p.Glu647del | |
| ENST00000359726.7:c.1663_1665del | ENSP00000352760.4:p.Glu555del | |
| ENST00000439274.6:c.1825_1827del | ENSP00000398879.2:p.Glu609del | |
| ENST00000440126.7:c.1921_1923del | ENSP00000387483.2:p.Glu641del | |
| ENST00000464867.1:n.340_342del | ||
| NM_000484.3:c.1993_1995del | NP_000475.1:p.Glu665del | |
| NM_001136016.3:c.1921_1923del | NP_001129488.1:p.Glu641del | |
| NM_001136129.2:c.1600_1602del | NP_001129601.1:p.Glu534del | |
| NM_001136130.2:c.1825_1827del | NP_001129602.1:p.Glu609del | |
| NM_001136131.2:c.1663_1665del | NP_001129603.1:p.Glu555del | |
| NM_001204301.1:c.1939_1941del | NP_001191230.1:p.Glu647del | |
| NM_001204302.1:c.1882_1884del | NP_001191231.1:p.Glu628del | |
| NM_001204303.1:c.1714_1716del | NP_001191232.1:p.Glu572del | |
| NM_201413.2:c.1936_1938del | NP_958816.1:p.Glu646del | |
| NM_201414.2:c.1768_1770del | NP_958817.1:p.Glu590del | |
| NM_000484.4:c.1993_1995del MANE Select | NP_000475.1:p.Glu665del | |
| NM_001136129.3:c.1600_1602del | NP_001129601.1:p.Glu534del | |
| NM_001136130.3:c.1825_1827del | NP_001129602.1:p.Glu609del | |
| NM_001204301.2:c.1939_1941del | NP_001191230.1:p.Glu647del | |
| NM_001204302.2:c.1882_1884del | NP_001191231.1:p.Glu628del | |
| NM_001204303.2:c.1714_1716del | NP_001191232.1:p.Glu572del | |
| NM_201413.3:c.1936_1938del | NP_958816.1:p.Glu646del | |
| NM_201414.3:c.1768_1770del | NP_958817.1:p.Glu590del | |
| NM_001136131.3:c.1663_1665del | NP_001129603.1:p.Glu555del | |
| NM_001385253.1:c.1825_1827del | NP_001372182.1:p.Glu609del |