Linked Data
gnomAD v4:
19-2251850-T-TGCGTGCCCACCGCCTACG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251851_2251868dup , CM000681.2:g.2251851_2251868dup | GRCh38 |
| NC_000019.9:g.2251850_2251867dup , CM000681.1:g.2251850_2251867dup | GRCh37 |
| NC_000019.8:g.2202850_2202867dup | NCBI36 |
| NG_012190.1:g.7738_7755dup | |
| NG_032853.1:g.9556_9573dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1577_1594dup MANE Select | ENSP00000221496.2:p.Tyr531_Ala532insGlyValProThrAlaTyr | |
| ENST00000221496.4:c.1577_1594dup | ENSP00000221496.2:p.Tyr531_Ala532insGlyValProThrAlaTyr | |
| NM_000479.3:c.1577_1594dup | NP_000470.2:p.Tyr531_Ala532insGlyValProThrAlaTyr | |
| NM_000479.4:c.1577_1594dup | NP_000470.2:p.Tyr531_Ala532insGlyValProThrAlaTyr | |
| NM_000479.5:c.1577_1594dup MANE Select | NP_000470.3:p.Tyr531_Ala532insGlyValProThrAlaTyr |