Linked Data
dbSNP Id:
rs35337694
gnomAD v3:
5-13841918-C-CAAAAAAAAAAAAAAAAAAA
gnomAD v4:
5-13841918-C-CAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13841919_13841937dup , CM000667.2:g.13841919_13841937dup | GRCh38 |
| NC_000005.9:g.13842028_13842046dup , CM000667.1:g.13842028_13842046dup | GRCh37 |
| NC_000005.8:g.13895028_13895046dup | NCBI36 |
| NG_013081.1:g.107544_107562dup | |
| NG_013081.2:g.107544_107562dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.5272-33_5272-15dup MANE Select | ENSP00000265104.4:n.5272-33_5272-15dup | |
| ENST00000681290.1:c.5227-33_5227-15dup | ENSP00000505288.1:n.5227-33_5227-15dup | |
| ENST00000265104.4:c.5272-33_5272-15dup | ENSP00000265104.4:n.5272-33_5272-15dup | |
| NM_001369.2:c.5272-33_5272-15dup | NP_001360.1:n.5272-33_5272-15dup | |
| XM_005248262.2:c.5227-33_5227-15dup | XP_005248319.1:n.5227-33_5227-15dup | |
| XM_011513990.1:c.5272-33_5272-15dup | XP_011512292.1:n.5272-33_5272-15dup | |
| XR_925598.1:n.5479-33_5479-15dup | ||
| XM_005248262.3:c.5380-33_5380-15dup | XP_005248319.2:n.5380-33_5380-15dup | |
| XM_017009177.1:c.5380-33_5380-15dup | XP_016864666.1:n.5380-33_5380-15dup | |
| XM_017009178.1:c.4285-33_4285-15dup | XP_016864667.1:n.4285-33_4285-15dup | |
| XM_017009179.2:c.4285-33_4285-15dup | XP_016864668.1:n.4285-33_4285-15dup | |
| XM_017009180.1:c.5380-33_5380-15dup | XP_016864669.1:n.5380-33_5380-15dup | |
| XM_017009181.1:c.5380-33_5380-15dup | XP_016864670.1:n.5380-33_5380-15dup | |
| XM_017009182.1:c.5380-33_5380-15dup | XP_016864671.1:n.5380-33_5380-15dup | |
| XM_017009183.1:c.5380-33_5380-15dup | XP_016864672.1:n.5380-33_5380-15dup | |
| XM_017009184.1:c.5380-33_5380-15dup | XP_016864673.1:n.5380-33_5380-15dup | |
| XM_017009185.1:c.469-33_469-15dup | XP_016864674.1:n.469-33_469-15dup | |
| XM_017009186.1:c.22-33_22-15dup | XP_016864675.1:n.22-33_22-15dup | |
| XM_017009187.1:c.5380-33_5380-15dup | XP_016864676.1:n.5380-33_5380-15dup | |
| XM_024454388.1:c.4285-33_4285-15dup | XP_024310156.1:n.4285-33_4285-15dup | |
| XM_024454389.1:c.3874-33_3874-15dup | XP_024310157.1:n.3874-33_3874-15dup | |
| XR_001742034.1:n.5397-33_5397-15dup | ||
| XR_001742035.1:n.5397-33_5397-15dup | ||
| NM_001369.3:c.5272-33_5272-15dup MANE Select | NP_001360.1:n.5272-33_5272-15dup |