Linked Data
gnomAD v4:
10-119651630-G-GCCAGCGCCCCGCACCCGCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651637_119651657dup , CM000672.2:g.119651637_119651657dup | GRCh38 |
| NC_000010.10:g.121411149_121411169dup , CM000672.1:g.121411149_121411169dup | GRCh37 |
| NC_000010.9:g.121401139_121401159dup | NCBI36 |
| NG_016125.1:g.5268_5288dup , LRG_742:g.5268_5288dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.-39_-19dup MANE Select | ENSP00000358081.4:n.-39_-19dup | |
| ENST00000369085.7:c.-39_-19dup | ENSP00000358081.3:n.-39_-19dup | |
| NM_004281.3:c.-39_-19dup , LRG_742t1:c.-39_-19dup | NP_004272.2:n.-39_-19dup | |
| XM_005270287.1:c.-39_-19dup | XP_005270344.1:n.-39_-19dup | |
| XM_005270287.2:c.-39_-19dup | XP_005270344.1:n.-39_-19dup | |
| NM_004281.4:c.-39_-19dup MANE Select | NP_004272.2:n.-39_-19dup |