Linked Data
dbSNP Id:
rs1783919442
gnomAD v3:
6-18130433-T-TTCACATCATAATCTC
gnomAD v4:
6-18130433-T-TTCACATCATAATCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130434_18130448dup , CM000668.2:g.18130434_18130448dup | GRCh38 |
| NC_000006.11:g.18130665_18130679dup , CM000668.1:g.18130665_18130679dup | GRCh37 |
| NC_000006.10:g.18238644_18238658dup | NCBI36 |
| NG_012137.2:g.29696_29710dup | |
| NG_012137.3:g.29696_29710dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.*220_*234dup MANE Select | ENSP00000312304.4:n.*220_*234dup | |
| ENST00000309983.4:c.*220_*234dup | ENSP00000312304.4:n.*220_*234dup | |
| NM_000367.3:c.*220_*234dup | NP_000358.1:n.*220_*234dup | |
| XM_011514839.1:c.*220_*234dup | XP_011513141.1:n.*220_*234dup | |
| XM_011514840.1:c.*220_*234dup | XP_011513142.1:n.*220_*234dup | |
| NM_000367.4:c.*220_*234dup | NP_000358.1:n.*220_*234dup | |
| NM_001346817.1:c.*220_*234dup | NP_001333746.1:n.*220_*234dup | |
| NM_001346818.1:c.*220_*234dup | NP_001333747.1:n.*220_*234dup | |
| NM_000367.5:c.*220_*234dup MANE Select | NP_000358.1:n.*220_*234dup |