Linked Data
dbSNP Id:
rs771272009
ExAC:
9:99006683 CAAG / C
gnomAD v2:
9-99006683-CAAG-C
gnomAD v3:
9-96244401-CAAG-C
gnomAD v4:
9-96244401-CAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96244405_96244407del , CM000671.2:g.96244405_96244407del | GRCh38 |
| NC_000009.11:g.99006687_99006689del , CM000671.1:g.99006687_99006689del | GRCh37 |
| NC_000009.10:g.98046508_98046510del | NCBI36 |
| NG_008157.1:g.62749_62751del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375262.4:c.607-10_607-8del | ENSP00000364411.2:n.607-10_607-8del | |
| ENST00000375263.8:c.607-10_607-8del MANE Select | ENSP00000364412.3:n.607-10_607-8del | |
| ENST00000463517.2:n.2139_2141del | ||
| ENST00000464104.6:n.1545-10_1545-8del | ||
| ENST00000467499.6:c.*306-10_*306-8del | ENSP00000498077.1:n.*306-10_*306-8del | |
| ENST00000494814.6:n.119-10_119-8del | ||
| ENST00000643789.1:c.2899-10_2899-8del | ||
| ENST00000648146.1:c.607-10_607-8del | ENSP00000497238.1:n.607-10_607-8del | |
| ENST00000648332.1:c.284-10_284-8del | ENSP00000497562.1:n.284-10_284-8del | |
| ENST00000648799.1:c.499-10_499-8del | ENSP00000498039.1:n.499-10_499-8del | |
| ENST00000650005.1:c.536-10_536-8del | ENSP00000498121.1:n.536-10_536-8del | |
| ENST00000375262.3:c.607-10_607-8del | ENSP00000364411.2:n.607-10_607-8del | |
| ENST00000375263.7:c.607-10_607-8del | ENSP00000364412.3:n.607-10_607-8del | |
| ENST00000464104.5:n.460-10_460-8del | ||
| ENST00000494814.5:n.128-10_128-8del | ||
| NM_000197.1:c.607-10_607-8del | NP_000188.1:n.607-10_607-8del | |
| XM_005251970.3:c.247-10_247-8del | XP_005252027.1:n.247-10_247-8del | |
| XM_011518618.1:c.607-10_607-8del | XP_011516920.1:n.607-10_607-8del | |
| XM_011518619.1:c.607-10_607-8del | XP_011516921.1:n.607-10_607-8del | |
| XM_011518620.1:c.499-10_499-8del | XP_011516922.1:n.499-10_499-8del | |
| XM_011518621.1:c.607-10_607-8del | XP_011516923.1:n.607-10_607-8del | |
| NM_000197.2:c.607-10_607-8del MANE Select | NP_000188.1:n.607-10_607-8del | |
| XM_011518618.2:c.607-10_607-8del | XP_011516920.1:n.607-10_607-8del | |
| XM_011518619.2:c.607-10_607-8del | XP_011516921.1:n.607-10_607-8del | |
| XM_017014671.1:c.607-10_607-8del | XP_016870160.1:n.607-10_607-8del | |
| XM_017014672.1:c.607-10_607-8del | XP_016870161.1:n.607-10_607-8del | |
| XM_017014673.2:c.571-10_571-8del | XP_016870162.1:n.571-10_571-8del | |
| XM_017014674.1:c.499-10_499-8del | XP_016870163.1:n.499-10_499-8del | |
| XM_017014675.1:c.445-10_445-8del | XP_016870164.1:n.445-10_445-8del | |
| XM_017014677.1:c.247-10_247-8del | XP_016870166.1:n.247-10_247-8del | |
| XM_024447529.1:c.445-10_445-8del | XP_024303297.1:n.445-10_445-8del | |
| XR_002956778.1:n.3041-10_3041-8del |