Linked Data
ClinVar Variation Id:
5088
ClinVar RCV Id:
RCV000005393
dbSNP Id:
rs80356531
gnomAD v4:
3-193692068-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193692070del , CM000665.2:g.193692070del | GRCh38 |
| NC_000003.11:g.193409859del , CM000665.1:g.193409859del | GRCh37 |
| NC_000003.10:g.194892553del | NCBI36 |
| NG_011605.1:g.103927del , LRG_337:g.103927del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361510.8:c.2991del MANE Select | ENSP00000355324.2:p.Arg998GlufsTer25 | |
| ENST00000361828.7:c.2826del | ENSP00000354429.3:p.Arg943GlufsTer25 | |
| ENST00000361908.8:c.2937del | ENSP00000354681.3:p.Arg980GlufsTer25 | |
| ENST00000392437.6:c.2880del | ENSP00000376232.2:p.Arg961GlufsTer25 | |
| ENST00000642289.1:c.2765del | ||
| ENST00000642445.1:c.*77del | ENSP00000495535.1:n.*77del | |
| ENST00000642593.1:c.*1051del | ENSP00000494273.1:n.*1051del | |
| ENST00000643329.1:c.2508del | ENSP00000493673.1:p.Arg837GlufsTer25 | |
| ENST00000643737.1:c.*2907del | ENSP00000494210.1:n.*2907del | |
| ENST00000644595.1:c.*36del | ENSP00000494121.1:n.*36del | |
| ENST00000644629.1:c.2413del | ||
| ENST00000644841.1:c.*1310del | ENSP00000493988.1:n.*1310del | |
| ENST00000644959.1:c.2820del | ||
| ENST00000645553.1:c.2841del | ENSP00000494725.1:p.Arg948GlufsTer25 | |
| ENST00000646085.1:c.*2304del | ENSP00000494509.1:n.*2304del | |
| ENST00000646277.1:c.*1427del | ENSP00000495289.1:n.*1427del | |
| ENST00000646544.1:c.1814del | ||
| ENST00000646699.1:c.2765del | ||
| ENST00000646793.1:c.2718del | ENSP00000494512.1:p.Arg907GlufsTer25 | |
| ENST00000361150.6:c.2829del | ENSP00000354781.2:p.Arg944GlufsTer25 | |
| ENST00000361510.6:c.2991del | ENSP00000355324.2:p.Arg998GlufsTer25 | |
| ENST00000361715.6:c.2883del | ENSP00000355311.2:p.Arg962GlufsTer25 | |
| ENST00000361828.6:c.2880del | ENSP00000354429.2:p.Arg961GlufsTer25 | |
| ENST00000361908.7:c.2937del | ENSP00000354681.3:p.Arg980GlufsTer25 | |
| ENST00000392438.7:c.2826del | ENSP00000376233.3:p.Arg943GlufsTer25 | |
| ENST00000495261.1:n.677del | ||
| NM_015560.2:c.2826del , LRG_337t1:c.2826del | NP_056375.2:p.Arg943GlufsTer25 | |
| NM_130831.2:c.2718del | NP_570844.1:p.Arg907GlufsTer25 | |
| NM_130832.2:c.2772del | NP_570845.1:p.Arg925GlufsTer25 | |
| NM_130833.2:c.2829del | NP_570846.1:p.Arg944GlufsTer25 | |
| NM_130834.2:c.2880del | NP_570847.2:p.Arg961GlufsTer25 | |
| NM_130835.2:c.2883del | NP_570848.1:p.Arg962GlufsTer25 | |
| NM_130836.2:c.2937del | NP_570849.2:p.Arg980GlufsTer25 | |
| NM_130837.2:c.2991del , LRG_337t2:c.2991del | NP_570850.2:p.Arg998GlufsTer25 | |
| NM_001354663.1:c.2457del | NP_001341592.1:p.Arg820GlufsTer25 | |
| NM_001354664.1:c.2454del | NP_001341593.1:p.Arg819GlufsTer25 | |
| XR_001740158.2:n.3245del | ||
| XR_001740159.2:n.3080del | ||
| NM_001354663.2:c.2457del | NP_001341592.1:p.Arg820GlufsTer25 | |
| NM_001354664.2:c.2454del | NP_001341593.1:p.Arg819GlufsTer25 | |
| NM_130831.3:c.2718del | NP_570844.1:p.Arg907GlufsTer25 | |
| NM_130832.3:c.2772del | NP_570845.1:p.Arg925GlufsTer25 | |
| NM_130834.3:c.2880del | NP_570847.2:p.Arg961GlufsTer25 | |
| NM_130836.3:c.2937del | NP_570849.2:p.Arg980GlufsTer25 | |
| NM_015560.3:c.2826del | NP_056375.2:p.Arg943GlufsTer25 | |
| NM_130833.3:c.2829del | NP_570846.1:p.Arg944GlufsTer25 | |
| NM_130835.3:c.2883del | NP_570848.1:p.Arg962GlufsTer25 | |
| NM_130837.3:c.2991del MANE Select | NP_570850.2:p.Arg998GlufsTer25 |