Linked Data
dbSNP Id:
rs1768929270
gnomAD v3:
6-33165139-TCCTACTGCTGCAGCC-T
gnomAD v4:
6-33165139-TCCTACTGCTGCAGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33165141_33165155del , CM000668.2:g.33165141_33165155del | GRCh38 |
| NC_000006.11:g.33132918_33132932del , CM000668.1:g.33132918_33132932del | GRCh37 |
| NC_000006.10:g.33240896_33240910del | NCBI36 |
| NG_011589.1:g.32315_32329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.557-190_557-176del | ||
| ENST00000341947.7:c.4751-190_4751-176del MANE Select | ENSP00000339915.2:n.4751-190_4751-176del | |
| ENST00000341947.6:c.4751-190_4751-176del | ENSP00000339915.2:n.4751-190_4751-176del | |
| ENST00000361917.5:c.4430-190_4430-176del | ENSP00000355123.1:n.4430-190_4430-176del | |
| ENST00000374708.8:c.4493-190_4493-176del | ENSP00000363840.4:n.4493-190_4493-176del | |
| ENST00000477772.1:n.541-190_541-176del | ||
| NM_080679.2:c.4430-190_4430-176del | NP_542410.2:n.4430-190_4430-176del | |
| NM_080680.2:c.4751-190_4751-176del | NP_542411.2:n.4751-190_4751-176del | |
| NM_080681.2:c.4493-190_4493-176del | NP_542412.2:n.4493-190_4493-176del | |
| XM_011514298.1:c.3905-190_3905-176del | XP_011512600.1:n.3905-190_3905-176del | |
| XM_011514299.1:c.4037-190_4037-176del | XP_011512601.1:n.4037-190_4037-176del | |
| XM_011514300.1:c.3857-190_3857-176del | XP_011512602.1:n.3857-190_3857-176del | |
| XM_011514301.1:c.3794-190_3794-176del | XP_011512603.1:n.3794-190_3794-176del | |
| XM_011514302.1:c.3638-190_3638-176del | XP_011512604.1:n.3638-190_3638-176del | |
| XM_011514299.2:c.4037-190_4037-176del | XP_011512601.1:n.4037-190_4037-176del | |
| XM_011514300.2:c.3857-190_3857-176del | XP_011512602.1:n.3857-190_3857-176del | |
| XM_011514302.2:c.3638-190_3638-176del | XP_011512604.1:n.3638-190_3638-176del | |
| XM_017010250.1:c.4751-190_4751-176del | XP_016865739.1:n.4751-190_4751-176del | |
| XM_017010251.2:c.3569-190_3569-176del | XP_016865740.1:n.3569-190_3569-176del | |
| NM_080680.3:c.4751-190_4751-176del MANE Select | NP_542411.2:n.4751-190_4751-176del | |
| NM_080681.3:c.4493-190_4493-176del | NP_542412.2:n.4493-190_4493-176del | |
| NM_080679.3:c.4430-190_4430-176del | NP_542410.2:n.4430-190_4430-176del |