Linked Data
gnomAD v3:
19-44908752-G-GGTGCGCCTCGCCTCCCACCTGCGC
gnomAD v4:
19-44908752-G-GGTGCGCCTCGCCTCCCACCTGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908753_44908776dup , CM000681.2:g.44908753_44908776dup | GRCh38 |
| NC_000019.9:g.45412010_45412033dup , CM000681.1:g.45412010_45412033dup | GRCh37 |
| NC_000019.8:g.50103850_50103873dup | NCBI36 |
| NG_007084.2:g.7972_7995dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252486.9:c.457_480dup MANE Select | ENSP00000252486.3:p.Arg160_Lys161insValAr... | |
| ENST00000252486.8:c.457_480dup | ENSP00000252486.3:p.Arg160_Lys161insValAr... | |
| ENST00000425718.1:c.457_480dup | ENSP00000410423.1:p.Arg160_Lys161insValAr... | |
| ENST00000434152.5:c.535_558dup | ENSP00000413653.2:p.Arg186_Lys187insValAr... | |
| ENST00000446996.5:c.457_480dup | ENSP00000413135.1:p.Arg160_Lys161insValAr... | |
| NM_000041.3:c.457_480dup | NP_000032.1:p.Arg160_Lys161insValArgLeuAl... | |
| NM_001302688.1:c.535_558dup | NP_001289617.1:p.Arg186_Lys187insValArgLe... | |
| NM_001302689.1:c.457_480dup | NP_001289618.1:p.Arg160_Lys161insValArgLe... | |
| NM_001302690.1:c.457_480dup | NP_001289619.1:p.Arg160_Lys161insValArgLe... | |
| NM_001302691.1:c.457_480dup | NP_001289620.1:p.Arg160_Lys161insValArgLe... | |
| NM_000041.4:c.457_480dup MANE Select | NP_000032.1:p.Arg160_Lys161insValArgLeuAl... | |
| NM_001302688.2:c.535_558dup | NP_001289617.1:p.Arg186_Lys187insValArgLe... | |
| NM_001302689.2:c.457_480dup | NP_001289618.1:p.Arg160_Lys161insValArgLe... | |
| NM_001302691.2:c.457_480dup | NP_001289620.1:p.Arg160_Lys161insValArgLe... | |
| NM_001302690.2:c.457_480dup | NP_001289619.1:p.Arg160_Lys161insValArgLe... |