Linked Data
dbSNP Id:
rs931540284
gnomAD v2:
5-13791714-TAAGTTA-T
gnomAD v3:
5-13791605-TAAGTTA-T
gnomAD v4:
5-13791605-TAAGTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13791610_13791615del , CM000667.2:g.13791610_13791615del | GRCh38 |
| NC_000005.9:g.13791719_13791724del , CM000667.1:g.13791719_13791724del | GRCh37 |
| NC_000005.8:g.13844719_13844724del | NCBI36 |
| NG_013081.1:g.157870_157875del | |
| NG_013081.2:g.157870_157875del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8448+383_8448+388del MANE Select | ENSP00000265104.4:n.8448+383_8448+388del | |
| ENST00000681290.1:c.8403+383_8403+388del | ENSP00000505288.1:n.8403+383_8403+388del | |
| ENST00000265104.4:c.8448+383_8448+388del | ENSP00000265104.4:n.8448+383_8448+388del | |
| NM_001369.2:c.8448+383_8448+388del | NP_001360.1:n.8448+383_8448+388del | |
| XM_005248262.2:c.8403+383_8403+388del | XP_005248319.1:n.8403+383_8403+388del | |
| XM_011513990.1:c.8448+383_8448+388del | XP_011512292.1:n.8448+383_8448+388del | |
| XR_925598.1:n.8655+383_8655+388del | ||
| XM_005248262.3:c.8556+383_8556+388del | XP_005248319.2:n.8556+383_8556+388del | |
| XM_017009177.1:c.8556+383_8556+388del | XP_016864666.1:n.8556+383_8556+388del | |
| XM_017009178.1:c.7461+383_7461+388del | XP_016864667.1:n.7461+383_7461+388del | |
| XM_017009179.2:c.7461+383_7461+388del | XP_016864668.1:n.7461+383_7461+388del | |
| XM_017009180.1:c.8556+383_8556+388del | XP_016864669.1:n.8556+383_8556+388del | |
| XM_017009181.1:c.8556+383_8556+388del | XP_016864670.1:n.8556+383_8556+388del | |
| XM_017009182.1:c.8556+383_8556+388del | XP_016864671.1:n.8556+383_8556+388del | |
| XM_017009183.1:c.8556+383_8556+388del | XP_016864672.1:n.8556+383_8556+388del | |
| XM_017009184.1:c.8556+383_8556+388del | XP_016864673.1:n.8556+383_8556+388del | |
| XM_017009185.1:c.3645+383_3645+388del | XP_016864674.1:n.3645+383_3645+388del | |
| XM_017009186.1:c.3198+383_3198+388del | XP_016864675.1:n.3198+383_3198+388del | |
| XM_017009188.1:c.2535+383_2535+388del | XP_016864677.1:n.2535+383_2535+388del | |
| XM_024454388.1:c.7461+383_7461+388del | XP_024310156.1:n.7461+383_7461+388del | |
| XM_024454389.1:c.7050+383_7050+388del | XP_024310157.1:n.7050+383_7050+388del | |
| XR_001742034.1:n.8573+383_8573+388del | ||
| XR_001742035.1:n.8573+383_8573+388del | ||
| NM_001369.3:c.8448+383_8448+388del MANE Select | NP_001360.1:n.8448+383_8448+388del |