Linked Data
dbSNP Id:
rs35593776
gnomAD v2:
5-13839092-T-TAA
gnomAD v3:
5-13838983-T-TAA
gnomAD v4:
5-13838983-T-TAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13838996_13838997dup , CM000667.2:g.13838996_13838997dup | GRCh38 |
| NC_000005.9:g.13839105_13839106dup , CM000667.1:g.13839105_13839106dup | GRCh37 |
| NC_000005.8:g.13892105_13892106dup | NCBI36 |
| NG_013081.1:g.110496_110497dup | |
| NG_013081.2:g.110496_110497dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.5882+371_5882+372dup MANE Select | ENSP00000265104.4:n.5882+371_5882+372dup | |
| ENST00000681290.1:c.5837+371_5837+372dup | ENSP00000505288.1:n.5837+371_5837+372dup | |
| ENST00000265104.4:c.5882+371_5882+372dup | ENSP00000265104.4:n.5882+371_5882+372dup | |
| NM_001369.2:c.5882+371_5882+372dup | NP_001360.1:n.5882+371_5882+372dup | |
| XM_005248262.2:c.5837+371_5837+372dup | XP_005248319.1:n.5837+371_5837+372dup | |
| XM_011513990.1:c.5882+371_5882+372dup | XP_011512292.1:n.5882+371_5882+372dup | |
| XR_925598.1:n.6089+371_6089+372dup | ||
| XM_005248262.3:c.5990+371_5990+372dup | XP_005248319.2:n.5990+371_5990+372dup | |
| XM_017009177.1:c.5990+371_5990+372dup | XP_016864666.1:n.5990+371_5990+372dup | |
| XM_017009178.1:c.4895+371_4895+372dup | XP_016864667.1:n.4895+371_4895+372dup | |
| XM_017009179.2:c.4895+371_4895+372dup | XP_016864668.1:n.4895+371_4895+372dup | |
| XM_017009180.1:c.5990+371_5990+372dup | XP_016864669.1:n.5990+371_5990+372dup | |
| XM_017009181.1:c.5990+371_5990+372dup | XP_016864670.1:n.5990+371_5990+372dup | |
| XM_017009182.1:c.5990+371_5990+372dup | XP_016864671.1:n.5990+371_5990+372dup | |
| XM_017009183.1:c.5990+371_5990+372dup | XP_016864672.1:n.5990+371_5990+372dup | |
| XM_017009184.1:c.5990+371_5990+372dup | XP_016864673.1:n.5990+371_5990+372dup | |
| XM_017009185.1:c.1079+371_1079+372dup | XP_016864674.1:n.1079+371_1079+372dup | |
| XM_017009186.1:c.632+371_632+372dup | XP_016864675.1:n.632+371_632+372dup | |
| XM_017009187.1:c.5990+371_5990+372dup | XP_016864676.1:n.5990+371_5990+372dup | |
| XM_024454388.1:c.4895+371_4895+372dup | XP_024310156.1:n.4895+371_4895+372dup | |
| XM_024454389.1:c.4484+371_4484+372dup | XP_024310157.1:n.4484+371_4484+372dup | |
| XR_001742034.1:n.6007+371_6007+372dup | ||
| XR_001742035.1:n.6007+371_6007+372dup | ||
| NM_001369.3:c.5882+371_5882+372dup MANE Select | NP_001360.1:n.5882+371_5882+372dup |