ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
MyVariant.info:
GRCh38
chr5:g.13876789dupT
GRCh38
chr5:g.13876788_13876789insT
GRCh37
chr5:g.13876898dupT
GRCh37
chr5:g.13876897_13876898insT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13876789dup , CM000667.2:g.13876789dup | GRCh38 |
| NC_000005.9:g.13876898dup , CM000667.1:g.13876898dup | GRCh37 |
| NC_000005.8:g.13929898dup | NCBI36 |
| NG_013081.1:g.72692dup | |
| NG_013081.2:g.72692dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3291dup MANE Select | ENSP00000265104.4:p.Pro1098ThrfsTer11 | |
| ENST00000681290.1:c.3246dup | ENSP00000505288.1:p.Pro1083ThrfsTer11 | |
| ENST00000265104.4:c.3291dup | ENSP00000265104.4:p.Pro1098ThrfsTer11 | |
| NM_001369.2:c.3291dup | NP_001360.1:p.Pro1098ThrfsTer11 | |
| XM_005248262.2:c.3246dup | XP_005248319.1:p.Pro1083ThrfsTer11 | |
| XM_011513990.1:c.3291dup | XP_011512292.1:p.Pro1098ThrfsTer11 | |
| XR_925598.1:n.3498dup | ||
| XM_005248262.3:c.3399dup | XP_005248319.2:p.Pro1134ThrfsTer11 | |
| XM_017009177.1:c.3399dup | XP_016864666.1:p.Pro1134ThrfsTer11 | |
| XM_017009178.1:c.2304dup | XP_016864667.1:p.Pro769ThrfsTer11 | |
| XM_017009179.2:c.2304dup | XP_016864668.1:p.Pro769ThrfsTer11 | |
| XM_017009180.1:c.3399dup | XP_016864669.1:p.Pro1134ThrfsTer11 | |
| XM_017009181.1:c.3399dup | XP_016864670.1:p.Pro1134ThrfsTer11 | |
| XM_017009182.1:c.3399dup | XP_016864671.1:p.Pro1134ThrfsTer11 | |
| XM_017009183.1:c.3399dup | XP_016864672.1:p.Pro1134ThrfsTer11 | |
| XM_017009184.1:c.3399dup | XP_016864673.1:p.Pro1134ThrfsTer11 | |
| XM_017009187.1:c.3399dup | XP_016864676.1:p.Pro1134ThrfsTer11 | |
| XM_024454388.1:c.2304dup | XP_024310156.1:p.Pro769ThrfsTer11 | |
| XM_024454389.1:c.1893dup | XP_024310157.1:p.Pro632ThrfsTer11 | |
| XR_001742034.1:n.3416dup | ||
| XR_001742035.1:n.3416dup | ||
| NM_001369.3:c.3291dup MANE Select | NP_001360.1:p.Pro1098ThrfsTer11 |