Linked Data
dbSNP Id:
rs774320828
gnomAD v2:
6-10404721-G-GGGGCCGTGCCGGGCC
gnomAD v4:
6-10404488-G-GGGGCCGTGCCGGGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404489_10404503dup , CM000668.2:g.10404489_10404503dup | GRCh38 |
| NC_000006.11:g.10404722_10404736dup , CM000668.1:g.10404722_10404736dup | GRCh37 |
| NC_000006.10:g.10512708_10512722dup | NCBI36 |
| NG_016151.1:g.20062_20076dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.746+5_746+19dup | ENSP00000368928.3:n.746+5_746+19dup | |
| ENST00000379613.10:c.770+5_770+19dup MANE Select | ENSP00000368933.5:n.770+5_770+19dup | |
| ENST00000482890.6:c.770+5_770+19dup | ENSP00000418541.2:n.770+5_770+19dup | |
| ENST00000488193.7:c.*261+5_*261+19dup | ENSP00000419823.3:n.*261+5_*261+19dup | |
| ENST00000498450.3:c.335+5_335+19dup | ENSP00000419961.3:n.335+5_335+19dup | |
| ENST00000319516.8:c.752+5_752+19dup | ENSP00000316516.4:n.752+5_752+19dup | |
| ENST00000379608.7:c.746+5_746+19dup | ENSP00000368928.3:n.746+5_746+19dup | |
| ENST00000379613.7:c.770+5_770+19dup | ENSP00000368933.3:n.770+5_770+19dup | |
| ENST00000461628.5:c.87+5_87+19dup | ||
| ENST00000466073.5:c.764+5_764+19dup | ENSP00000417495.1:n.764+5_764+19dup | |
| ENST00000475264.5:c.478+5_478+19dup | ||
| ENST00000478375.5:n.764+5_764+19dup | ||
| ENST00000482890.5:c.764+5_764+19dup | ENSP00000418541.1:n.764+5_764+19dup | |
| ENST00000488193.5:c.*261+5_*261+19dup | ENSP00000419823.1:n.*261+5_*261+19dup | |
| ENST00000489805.5:c.*261+5_*261+19dup | ENSP00000420568.1:n.*261+5_*261+19dup | |
| ENST00000497266.5:n.735+5_735+19dup | ||
| ENST00000498450.1:c.335+5_335+19dup | ENSP00000419961.1:n.335+5_335+19dup | |
| NM_001032280.2:c.746+5_746+19dup | NP_001027451.1:n.746+5_746+19dup | |
| NM_001042425.1:c.752+5_752+19dup | NP_001035890.1:n.752+5_752+19dup | |
| NM_003220.2:c.764+5_764+19dup | NP_003211.1:n.764+5_764+19dup | |
| XM_006715175.2:c.899+5_899+19dup | XP_006715238.1:n.899+5_899+19dup | |
| XM_011514833.1:c.614+5_614+19dup | XP_011513135.1:n.614+5_614+19dup | |
| XM_011514833.2:c.614+5_614+19dup | XP_011513135.1:n.614+5_614+19dup | |
| XM_017011232.1:c.1010+5_1010+19dup | XP_016866721.1:n.1010+5_1010+19dup | |
| NM_003220.3:c.764+5_764+19dup | NP_003211.1:n.764+5_764+19dup | |
| NM_001032280.3:c.746+5_746+19dup | NP_001027451.1:n.746+5_746+19dup | |
| NM_001042425.2:c.752+5_752+19dup | NP_001035890.1:n.752+5_752+19dup | |
| NM_001372066.1:c.770+5_770+19dup MANE Select | NP_001358995.1:n.770+5_770+19dup | |
| NM_001042425.3:c.752+5_752+19dup | NP_001035890.1:n.752+5_752+19dup |