Linked Data
dbSNP Id:
rs2036266124
gnomAD v3:
13-113119605-G-GGATGCACGCACATGCC
gnomAD v4:
13-113119605-G-GGATGCACGCACATGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113119606_113119621dup , CM000675.2:g.113119606_113119621dup | GRCh38 |
| NC_000013.10:g.113773920_113773935dup , CM000675.1:g.113773920_113773935dup | GRCh37 |
| NC_000013.9:g.112821921_112821936dup | NCBI36 |
| NG_009258.1:g.1808_1823dup , LRG_548:g.1808_1823dup | |
| NG_009262.1:g.18816_18831dup , LRG_554:g.18816_18831dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.*598_*613dup MANE Select | ENSP00000329546.4:n.*598_*613dup | |
| ENST00000346342.7:c.*598_*613dup | ENSP00000329546.3:n.*598_*613dup | |
| ENST00000375581.3:c.*598_*613dup | ENSP00000364731.3:n.*598_*613dup | |
| ENST00000541084.5:c.*598_*613dup | ENSP00000442051.2:n.*598_*613dup | |
| NM_000131.4:c.*598_*613dup , LRG_554t1:c.*598_*613dup | NP_000122.1:n.*598_*613dup | |
| NM_001267554.1:c.*598_*613dup | NP_001254483.1:n.*598_*613dup | |
| NM_019616.3:c.*598_*613dup , LRG_554t2:c.*598_*613dup | NP_062562.1:n.*598_*613dup | |
| NR_051961.1:n.2020_2035dup | ||
| XM_006719963.2:c.*598_*613dup | XP_006720026.1:n.*598_*613dup | |
| XM_011537474.1:c.*598_*613dup | XP_011535776.1:n.*598_*613dup | |
| XM_011537475.1:c.*598_*613dup | XP_011535777.1:n.*598_*613dup | |
| XM_011537476.1:c.*598_*613dup | XP_011535778.1:n.*598_*613dup | |
| XM_011537477.1:c.*598_*613dup | XP_011535779.1:n.*598_*613dup | |
| XM_006719963.3:c.*598_*613dup | XP_006720026.2:n.*598_*613dup | |
| XM_011537474.2:c.*598_*613dup | XP_011535776.2:n.*598_*613dup | |
| XM_011537475.2:c.*598_*613dup | XP_011535777.2:n.*598_*613dup | |
| XM_011537476.2:c.*598_*613dup | XP_011535778.1:n.*598_*613dup | |
| NM_019616.4:c.*598_*613dup MANE Select | NP_062562.1:n.*598_*613dup | |
| NR_051961.2:n.2017_2032dup | ||
| NM_001267554.2:c.*598_*613dup | NP_001254483.1:n.*598_*613dup |