Linked Data
dbSNP Id:
rs1389648835
gnomAD v2:
20-4957584-TGCACTTCAGCCTGGGTGGCTGAGA-T
gnomAD v3:
20-4976938-TGCACTTCAGCCTGGGTGGCTGAGA-T
gnomAD v4:
20-4976938-TGCACTTCAGCCTGGGTGGCTGAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4976940_4976963del , CM000682.2:g.4976940_4976963del | GRCh38 |
| NC_000020.10:g.4957586_4957609del , CM000682.1:g.4957586_4957609del | GRCh37 |
| NC_000020.9:g.4905586_4905609del | NCBI36 |
| NG_029959.1:g.29538_29561del | |
| NG_029959.2:g.38332_38355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338244.6:c.-281-6043_-281-6020del MANE Select | ENSP00000344322.1:n.-281-6043_-281-6020del | |
| ENST00000338244.5:c.-281-6043_-281-6020del | ENSP00000344322.1:n.-281-6043_-281-6020del | |
| ENST00000379333.5:c.-281-6043_-281-6020del | ENSP00000368637.1:n.-281-6043_-281-6020del | |
| ENST00000468355.5:n.90-6047_90-6024del | ||
| NM_005116.5:c.-281-6043_-281-6020del | NP_005107.4:n.-281-6043_-281-6020del | |
| NM_203327.1:c.-281-6043_-281-6020del | NP_976072.1:n.-281-6043_-281-6020del | |
| XM_011529414.1:c.-277-6047_-277-6024del | XP_011527716.1:n.-277-6047_-277-6024del | |
| XM_011529417.1:c.-155+24444_-155+24467del | XP_011527719.1:n.-155+24444_-155+24467del | |
| NM_005116.6:c.-281-6043_-281-6020del MANE Select | NP_005107.4:n.-281-6043_-281-6020del | |
| NM_203327.2:c.-281-6043_-281-6020del | NP_976072.1:n.-281-6043_-281-6020del |