Identifiers and link-outs to other resources
ClinVar Variation Id:
418685
ClinVar RCV Id:
RCV000487284
dbSNP Id:
rs1064793365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6002480del , CM000669.2:g.6002480del | GRCh38 |
| NC_000007.13:g.6042111del , CM000669.1:g.6042111del | GRCh37 |
| NC_000007.12:g.6008637del | NCBI36 |
| NG_008466.1:g.11627del , LRG_161:g.11627del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000535.5:c.510del , LRG_161t1:c.510del | NP_000526.1:p.His170GlnfsTer? | |
| NR_003085.2:n.592del | ||
| XM_006715742.2:c.504del | XP_006715805.1:p.His168GlnfsTer? | |
| XM_011515427.1:c.555del | XP_011513729.1:p.His185GlnfsTer? | |
| XM_011515428.1:c.555del | XP_011513730.1:p.His185GlnfsTer? | |
| XM_011515429.1:c.192del | XP_011513731.1:p.His64GlnfsTer? | |
| XM_011515430.1:c.192del | XP_011513732.1:p.His64GlnfsTer? | |
| NM_000535.6:c.510del VV | NP_000526.2:p.His170GlnfsTer? | |
| NM_001322003.1:c.105del VV | NP_001308932.1:p.His35GlnfsTer? | |
| NM_001322004.1:c.105del VV | NP_001308933.1:p.His35GlnfsTer? | |
| NM_001322005.1:c.105del VV | NP_001308934.1:p.His35GlnfsTer? | |
| NM_001322006.1:c.510del VV | NP_001308935.1:p.His170GlnfsTer? | |
| NM_001322007.1:c.192del VV | NP_001308936.1:p.His64GlnfsTer? | |
| NM_001322008.1:c.192del VV | NP_001308937.1:p.His64GlnfsTer? | |
| NM_001322009.1:c.105del VV | NP_001308938.1:p.His35GlnfsTer? | |
| NM_001322010.1:c.105del VV | NP_001308939.1:p.His35GlnfsTer? | |
| NM_001322011.1:c.-375del VV | NP_001308940.1:p.= | |
| NM_001322012.1:c.-375del VV | NP_001308941.1:p.= | |
| NM_001322013.1:c.105del VV | NP_001308942.1:p.His35GlnfsTer? | |
| NM_001322014.1:c.510del VV | NP_001308943.1:p.His170GlnfsTer? | |
| NM_001322015.1:c.201del VV | NP_001308944.1:p.His67GlnfsTer? | |
| NR_136154.1:n.597del | ||
| XM_017012342.2:c.-275del | XP_016867831.1:p.= | |
| XM_024446800.1:c.105del | XP_024302568.1:p.His35GlnfsTer? | |
| NM_000535.7:c.510del VV MANE Preferred | NP_000526.2:p.His170GlnfsTer? | |
| NM_001322003.2:c.105del VV | NP_001308932.1:p.His35GlnfsTer? | |
| NM_001322004.2:c.105del VV | NP_001308933.1:p.His35GlnfsTer? | |
| NM_001322005.2:c.105del VV | NP_001308934.1:p.His35GlnfsTer? | |
| NM_001322006.2:c.510del VV | NP_001308935.1:p.His170GlnfsTer? | |
| NM_001322008.2:c.192del VV | NP_001308937.1:p.His64GlnfsTer? | |
| NM_001322009.2:c.105del VV | NP_001308938.1:p.His35GlnfsTer? | |
| NM_001322010.2:c.105del VV | NP_001308939.1:p.His35GlnfsTer? | |
| NM_001322011.2:c.-375del VV | NP_001308940.1:p.= | |
| NM_001322012.2:c.-375del VV | NP_001308941.1:p.= | |
| NM_001322013.2:c.105del VV | NP_001308942.1:p.His35GlnfsTer? | |
| NM_001322014.2:c.510del VV | NP_001308943.1:p.His170GlnfsTer? | |
| NM_001322015.2:c.201del VV | NP_001308944.1:p.His67GlnfsTer? | |
| NM_001322007.2:c.192del VV | NP_001308936.1:p.His64GlnfsTer? | |
| ENST00000265849.11:c.510del | ENSP00000265849.7:p.His170GlnfsTer? | |
| ENST00000380416.5:n.589del | ||
| ENST00000382321.5:n.510del | ENSP00000371758.4:p.His170GlnfsTer? | |
| ENST00000406569.7:n.510del | ||
| ENST00000441476.6:c.192del | ENSP00000392843.2:p.His64GlnfsTer? | |
| ENST00000469652.1:n.62+3513del |