Linked Data
dbSNP Id:
rs1431574734
gnomAD v2:
16-89811338-G-GCACACCCCATCTCACCACC
gnomAD v4:
16-89744930-G-GCACACCCCATCTCACCACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89744936_89744954dup , CM000678.2:g.89744936_89744954dup | GRCh38 |
| NC_000016.9:g.89811344_89811362dup , CM000678.1:g.89811344_89811362dup | GRCh37 |
| NC_000016.8:g.88338845_88338863dup | NCBI36 |
| NG_011706.1:g.76709_76727dup , LRG_495:g.76709_76727dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*2104+10_*2104+28dup | ENSP00000512522.1:n.*2104+10_*2104+28dup | |
| ENST00000564475.6:c.3626+10_3626+28dup | ENSP00000454977.2:n.3626+10_3626+28dup | |
| ENST00000567510.2:c.2196+10_2196+28dup | ENSP00000455969.1:n.2196+10_2196+28dup | |
| ENST00000568369.6:c.3626+10_3626+28dup | ENSP00000456829.1:n.3626+10_3626+28dup | |
| ENST00000568983.6:n.655_673dup | ||
| ENST00000696274.1:n.3587+10_3587+28dup | ||
| ENST00000696275.1:c.*2861+10_*2861+28dup | ENSP00000512517.1:n.*2861+10_*2861+28dup | |
| ENST00000696286.1:c.3626+10_3626+28dup | ENSP00000512523.1:n.3626+10_3626+28dup | |
| ENST00000696287.1:c.3497+10_3497+28dup | ENSP00000512524.1:n.3497+10_3497+28dup | |
| ENST00000696291.1:c.*3058+10_*3058+28dup | ENSP00000512530.1:n.*3058+10_*3058+28dup | |
| ENST00000389301.8:c.3626+10_3626+28dup MANE Select | ENSP00000373952.3:n.3626+10_3626+28dup | |
| ENST00000305699.15:n.869+10_869+28dup | ||
| ENST00000389301.7:c.3626+10_3626+28dup | ENSP00000373952.3:n.3626+10_3626+28dup | |
| ENST00000564969.5:n.50+10_50+28dup | ||
| ENST00000567879.5:c.104+10_104+28dup | ENSP00000457006.1:n.104+10_104+28dup | |
| ENST00000567988.5:c.878+10_878+28dup | ||
| ENST00000568369.5:c.3626+10_3626+28dup | ENSP00000456829.1:n.3626+10_3626+28dup | |
| ENST00000568626.1:c.474+10_474+28dup | ||
| ENST00000568983.5:n.464_482dup | ||
| NM_000135.2:c.3626+10_3626+28dup , LRG_495t1:c.3626+10_3626+28dup | NP_000126.2:n.3626+10_3626+28dup | |
| NM_001286167.1:c.3626+10_3626+28dup | NP_001273096.1:n.3626+10_3626+28dup | |
| XM_005256294.3:c.3626+10_3626+28dup | XP_005256351.1:n.3626+10_3626+28dup | |
| XM_011522945.1:c.3497+10_3497+28dup | XP_011521247.1:n.3497+10_3497+28dup | |
| XM_011522946.1:c.2603+10_2603+28dup | XP_011521248.1:n.2603+10_2603+28dup | |
| XM_011522947.1:c.2603+10_2603+28dup | XP_011521249.1:n.2603+10_2603+28dup | |
| XR_933244.1:n.3669+10_3669+28dup | ||
| XR_933245.1:n.3669+10_3669+28dup | ||
| XR_933246.1:n.3496+10_3496+28dup | ||
| NM_000135.3:c.3626+10_3626+28dup | NP_000126.2:n.3626+10_3626+28dup | |
| NM_001286167.2:c.3626+10_3626+28dup | NP_001273096.1:n.3626+10_3626+28dup | |
| XM_005256294.4:c.3626+10_3626+28dup | XP_005256351.1:n.3626+10_3626+28dup | |
| XM_011522945.2:c.3497+10_3497+28dup | XP_011521247.1:n.3497+10_3497+28dup | |
| XM_011522946.3:c.2603+10_2603+28dup | XP_011521248.1:n.2603+10_2603+28dup | |
| XM_011522947.2:c.2603+10_2603+28dup | XP_011521249.1:n.2603+10_2603+28dup | |
| XM_017023044.2:c.3497+10_3497+28dup | XP_016878533.1:n.3497+10_3497+28dup | |
| XM_024450189.1:c.2603+10_2603+28dup | XP_024305957.1:n.2603+10_2603+28dup | |
| XR_001751866.1:n.3496+10_3496+28dup | ||
| XR_933244.2:n.3669+10_3669+28dup | ||
| XR_933245.2:n.3669+10_3669+28dup | ||
| NM_000135.4:c.3626+10_3626+28dup MANE Select | NP_000126.2:n.3626+10_3626+28dup | |
| NM_001286167.3:c.3626+10_3626+28dup | NP_001273096.1:n.3626+10_3626+28dup |