Linked Data
dbSNP Id:
rs767341944
gnomAD v2:
13-113768328-AG-A
gnomAD v3:
13-113114014-AG-A
gnomAD v4:
13-113114014-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113114016del , CM000675.2:g.113114016del | GRCh38 |
| NC_000013.10:g.113768330del , CM000675.1:g.113768330del | GRCh37 |
| NC_000013.9:g.112816331del | NCBI36 |
| NG_009262.1:g.13226del , LRG_554:g.13226del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.364+56del MANE Select | ENSP00000329546.4:n.364+56del | |
| ENST00000346342.7:c.364+56del | ENSP00000329546.3:n.364+56del | |
| ENST00000375581.3:c.430+56del | ENSP00000364731.3:n.430+56del | |
| ENST00000444337.1:c.*172+56del | ENSP00000387669.1:n.*172+56del | |
| ENST00000473085.1:n.311+56del | ||
| ENST00000479674.1:n.697+56del | ||
| ENST00000541084.5:c.178+56del | ENSP00000442051.2:n.178+56del | |
| NM_000131.4:c.430+56del , LRG_554t1:c.430+56del | NP_000122.1:n.430+56del | |
| NM_001267554.1:c.178+56del | NP_001254483.1:n.178+56del | |
| NM_019616.3:c.364+56del , LRG_554t2:c.364+56del | NP_062562.1:n.364+56del | |
| NR_051961.1:n.451+56del | ||
| XM_006719963.2:c.364+56del | XP_006720026.1:n.364+56del | |
| XM_011537474.1:c.364+56del | XP_011535776.1:n.364+56del | |
| XM_011537475.1:c.178+56del | XP_011535777.1:n.178+56del | |
| XM_011537477.1:c.325+56del | XP_011535779.1:n.325+56del | |
| XM_006719963.3:c.409+56del | XP_006720026.2:n.409+56del | |
| XM_011537474.2:c.409+56del | XP_011535776.2:n.409+56del | |
| XM_011537475.2:c.223+56del | XP_011535777.2:n.223+56del | |
| XM_011537476.2:c.-753del | XP_011535778.1:n.-753del | |
| NM_019616.4:c.364+56del MANE Select | NP_062562.1:n.364+56del | |
| NR_051961.2:n.448+56del | ||
| NM_001267554.2:c.178+56del | NP_001254483.1:n.178+56del |