gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913182dup , CM000674.2:g.51913182dup | GRCh38 |
| NC_000012.11:g.52306966dup , CM000674.1:g.52306966dup | GRCh37 |
| NC_000012.10:g.50593233dup | NCBI36 |
| NG_009549.1:g.10765dup , LRG_543:g.10765dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.187dup | ENSP00000446724.2:p.Ala63GlyfsTer? | |
| ENST00000551576.6:c.145dup | ENSP00000455848.2:p.Ala49GlyfsTer? | |
| ENST00000552678.2:c.145dup | ENSP00000457394.2:p.Ala49GlyfsTer? | |
| ENST00000388922.9:c.145dup MANE Select | ENSP00000373574.4:p.Ala49GlyfsTer? | |
| ENST00000388922.8:c.145dup | ENSP00000373574.4:p.Ala49GlyfsTer? | |
| ENST00000419526.6:c.103+647dup | ENSP00000392492.2:n.103+647dup | |
| ENST00000547400.5:c.187dup | ENSP00000446724.1:p.Ala63GlyfsTer? | |
| ENST00000550683.5:c.187dup | ENSP00000447884.1:p.Ala63GlyfsTer? | |
| ENST00000551576.5:c.145dup | ENSP00000455848.1:p.Ala49GlyfsTer? | |
| NM_000020.2:c.145dup , LRG_543t1:c.145dup | NP_000011.2:p.Ala49GlyfsTer? | |
| NM_001077401.1:c.145dup | NP_001070869.1:p.Ala49GlyfsTer? | |
| XM_005269235.2:c.145dup | XP_005269292.1:p.Ala49GlyfsTer? | |
| XM_011539008.1:c.187dup | XP_011537310.1:p.Ala63GlyfsTer? | |
| NM_000020.3:c.145dup MANE Select | NP_000011.2:p.Ala49GlyfsTer? | |
| NM_001077401.2:c.145dup | NP_001070869.1:p.Ala49GlyfsTer? |