Linked Data
dbSNP Id:
rs35337694
gnomAD v3:
5-13841918-CAAAAAAAAA-C
gnomAD v4:
5-13841918-CAAAAAAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13841929_13841937del , CM000667.2:g.13841929_13841937del | GRCh38 |
| NC_000005.9:g.13842038_13842046del , CM000667.1:g.13842038_13842046del | GRCh37 |
| NC_000005.8:g.13895038_13895046del | NCBI36 |
| NG_013081.1:g.107554_107562del | |
| NG_013081.2:g.107554_107562del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.5272-23_5272-15del MANE Select | ENSP00000265104.4:n.5272-23_5272-15del | |
| ENST00000681290.1:c.5227-23_5227-15del | ENSP00000505288.1:n.5227-23_5227-15del | |
| ENST00000265104.4:c.5272-23_5272-15del | ENSP00000265104.4:n.5272-23_5272-15del | |
| NM_001369.2:c.5272-23_5272-15del | NP_001360.1:n.5272-23_5272-15del | |
| XM_005248262.2:c.5227-23_5227-15del | XP_005248319.1:n.5227-23_5227-15del | |
| XM_011513990.1:c.5272-23_5272-15del | XP_011512292.1:n.5272-23_5272-15del | |
| XR_925598.1:n.5479-23_5479-15del | ||
| XM_005248262.3:c.5380-23_5380-15del | XP_005248319.2:n.5380-23_5380-15del | |
| XM_017009177.1:c.5380-23_5380-15del | XP_016864666.1:n.5380-23_5380-15del | |
| XM_017009178.1:c.4285-23_4285-15del | XP_016864667.1:n.4285-23_4285-15del | |
| XM_017009179.2:c.4285-23_4285-15del | XP_016864668.1:n.4285-23_4285-15del | |
| XM_017009180.1:c.5380-23_5380-15del | XP_016864669.1:n.5380-23_5380-15del | |
| XM_017009181.1:c.5380-23_5380-15del | XP_016864670.1:n.5380-23_5380-15del | |
| XM_017009182.1:c.5380-23_5380-15del | XP_016864671.1:n.5380-23_5380-15del | |
| XM_017009183.1:c.5380-23_5380-15del | XP_016864672.1:n.5380-23_5380-15del | |
| XM_017009184.1:c.5380-23_5380-15del | XP_016864673.1:n.5380-23_5380-15del | |
| XM_017009185.1:c.469-23_469-15del | XP_016864674.1:n.469-23_469-15del | |
| XM_017009186.1:c.22-23_22-15del | XP_016864675.1:n.22-23_22-15del | |
| XM_017009187.1:c.5380-23_5380-15del | XP_016864676.1:n.5380-23_5380-15del | |
| XM_024454388.1:c.4285-23_4285-15del | XP_024310156.1:n.4285-23_4285-15del | |
| XM_024454389.1:c.3874-23_3874-15del | XP_024310157.1:n.3874-23_3874-15del | |
| XR_001742034.1:n.5397-23_5397-15del | ||
| XR_001742035.1:n.5397-23_5397-15del | ||
| NM_001369.3:c.5272-23_5272-15del MANE Select | NP_001360.1:n.5272-23_5272-15del |