Linked Data
gnomAD v2:
X-63412134-C-CCATGCTGTCTGT
gnomAD v3:
X-64192254-C-CCATGCTGTCTGT
gnomAD v4:
X-64192254-C-CCATGCTGTCTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192258_64192269dup , CM000685.2:g.64192258_64192269dup | GRCh38 |
| NC_000023.10:g.63412138_63412149dup , CM000685.1:g.63412138_63412149dup | GRCh37 |
| NC_000023.9:g.63328863_63328874dup | NCBI36 |
| NG_021345.1:g.18479_18490dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1021_1032dup MANE Select | ENSP00000364003.4:p.Met344_Ala345insThrAspSerMet | |
| ENST00000330258.3:c.1021_1032dup | ENSP00000329117.3:p.Met344_Ala345insThrAspSerMet | |
| ENST00000374869.7:c.1021_1032dup | ENSP00000364003.3:p.Met344_Ala345insThrAspSerMet | |
| NM_152424.3:c.1021_1032dup | NP_689637.3:p.Met344_Ala345insThrAspSerMet | |
| XM_011530858.1:c.1021_1032dup | XP_011529160.1:p.Met344_Ala345insThrAspSerMet | |
| NM_152424.4:c.1021_1032dup MANE Select | NP_689637.3:p.Met344_Ala345insThrAspSerMet |