Linked Data
dbSNP Id:
rs1765238406
gnomAD v2:
5-13842046-AGCTATAGTC-A
gnomAD v3:
5-13841937-AGCTATAGTC-A
gnomAD v4:
5-13841937-AGCTATAGTC-A
MyVariant Identifiers:
chr5:g.13842047_13842059delinsATAT (hg19)
chr5:g.13841938_13841950delinsATAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13841938_13841946del , CM000667.2:g.13841938_13841946del | GRCh38 |
| NC_000005.9:g.13842047_13842055del , CM000667.1:g.13842047_13842055del | GRCh37 |
| NC_000005.8:g.13895047_13895055del | NCBI36 |
| NG_013081.1:g.107535_107543del | |
| NG_013081.2:g.107535_107543del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.5272-42_5272-34del MANE Select | ENSP00000265104.4:n.5272-42_5272-34del | |
| ENST00000681290.1:c.5227-42_5227-34del | ENSP00000505288.1:n.5227-42_5227-34del | |
| ENST00000265104.4:c.5272-42_5272-34del | ENSP00000265104.4:n.5272-42_5272-34del | |
| NM_001369.2:c.5272-42_5272-34del | NP_001360.1:n.5272-42_5272-34del | |
| XM_005248262.2:c.5227-42_5227-34del | XP_005248319.1:n.5227-42_5227-34del | |
| XM_011513990.1:c.5272-42_5272-34del | XP_011512292.1:n.5272-42_5272-34del | |
| XR_925598.1:n.5479-42_5479-34del | ||
| XM_005248262.3:c.5380-42_5380-34del | XP_005248319.2:n.5380-42_5380-34del | |
| XM_017009177.1:c.5380-42_5380-34del | XP_016864666.1:n.5380-42_5380-34del | |
| XM_017009178.1:c.4285-42_4285-34del | XP_016864667.1:n.4285-42_4285-34del | |
| XM_017009179.2:c.4285-42_4285-34del | XP_016864668.1:n.4285-42_4285-34del | |
| XM_017009180.1:c.5380-42_5380-34del | XP_016864669.1:n.5380-42_5380-34del | |
| XM_017009181.1:c.5380-42_5380-34del | XP_016864670.1:n.5380-42_5380-34del | |
| XM_017009182.1:c.5380-42_5380-34del | XP_016864671.1:n.5380-42_5380-34del | |
| XM_017009183.1:c.5380-42_5380-34del | XP_016864672.1:n.5380-42_5380-34del | |
| XM_017009184.1:c.5380-42_5380-34del | XP_016864673.1:n.5380-42_5380-34del | |
| XM_017009185.1:c.469-42_469-34del | XP_016864674.1:n.469-42_469-34del | |
| XM_017009186.1:c.22-42_22-34del | XP_016864675.1:n.22-42_22-34del | |
| XM_017009187.1:c.5380-42_5380-34del | XP_016864676.1:n.5380-42_5380-34del | |
| XM_024454388.1:c.4285-42_4285-34del | XP_024310156.1:n.4285-42_4285-34del | |
| XM_024454389.1:c.3874-42_3874-34del | XP_024310157.1:n.3874-42_3874-34del | |
| XR_001742034.1:n.5397-42_5397-34del | ||
| XR_001742035.1:n.5397-42_5397-34del | ||
| NM_001369.3:c.5272-42_5272-34del MANE Select | NP_001360.1:n.5272-42_5272-34del |