ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49017634_49017635dup , CM000665.2:g.49017634_49017635dup | GRCh38 |
| NC_000003.11:g.49055067_49055068dup , CM000665.1:g.49055067_49055068dup | GRCh37 |
| NC_000003.10:g.49030071_49030072dup | NCBI36 |
| NG_016282.1:g.2160_2161dup | |
| NG_029915.1:g.15431_15432dup | |
| NG_033126.1:g.8439_8440dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341949.9:c.698_699dup MANE Select | ENSP00000344989.4:p.Asn234ProfsTer8 | |
| ENST00000313778.9:c.197_198dup | ENSP00000323265.5:p.Asn67ProfsTer8 | |
| ENST00000341949.8:c.698_699dup | ENSP00000344989.4:p.Asn234ProfsTer8 | |
| ENST00000420952.2:c.593_594dup | ENSP00000397385.2:p.Asn199ProfsTer8 | |
| ENST00000440857.5:c.197_198dup | ENSP00000403770.1:p.Asn67ProfsTer8 | |
| ENST00000441576.6:c.698_699dup | ENSP00000410623.2:p.Asn234ProfsTer8 | |
| ENST00000460505.5:n.781_782dup | ||
| ENST00000467457.5:n.389_390dup | ||
| ENST00000484831.5:n.705_706dup | ||
| ENST00000496568.1:c.197_198dup | ENSP00000485305.1:p.Asn67ProfsTer? | |
| ENST00000498794.1:n.944_945dup | ||
| NM_001009996.2:c.698_699dup | NP_001009996.1:p.Asn234ProfsTer8 | |
| NM_001276405.1:c.698_699dup | NP_001263334.1:p.Asn234ProfsTer8 | |
| NM_018114.5:c.197_198dup | NP_060584.3:p.Asn67ProfsTer8 | |
| XM_005265269.3:c.698_699dup | XP_005265326.1:p.Asn234ProfsTer8 | |
| XM_006713219.2:c.197_198dup | XP_006713282.1:p.Asn67ProfsTer8 | |
| XM_011533891.1:c.698_699dup | XP_011532193.1:p.Asn234ProfsTer8 | |
| XM_011533892.1:c.197_198dup | XP_011532194.1:p.Asn67ProfsTer8 | |
| XM_011533893.1:c.698_699dup | XP_011532195.1:p.Asn234ProfsTer8 | |
| XR_940464.1:n.723_724dup | ||
| XR_940465.1:n.733_734dup | ||
| XM_005265269.4:c.698_699dup | XP_005265326.1:p.Asn234ProfsTer8 | |
| XM_011533891.2:c.698_699dup | XP_011532193.1:p.Asn234ProfsTer8 | |
| XM_011533892.2:c.197_198dup | XP_011532194.1:p.Asn67ProfsTer8 | |
| XM_011533893.2:c.698_699dup | XP_011532195.1:p.Asn234ProfsTer8 | |
| XM_017006723.1:c.197_198dup | XP_016862212.1:p.Asn67ProfsTer8 | |
| XR_001740191.2:n.718_719dup | ||
| XR_940464.3:n.718_719dup | ||
| NM_001009996.3:c.698_699dup MANE Select | NP_001009996.1:p.Asn234ProfsTer8 | |
| NM_001276405.2:c.698_699dup | NP_001263334.1:p.Asn234ProfsTer8 | |
| NM_018114.6:c.197_198dup | NP_060584.3:p.Asn67ProfsTer8 |