Linked Data
ClinVar Variation Id:
6940
ClinVar RCV Id:
RCV000007353
RCV000007354
RCV000133576
RCV000212733
RCV000415248
RCV001270991
RCV001357671
RCV001391203
RCV001535498
RCV001574072
RCV002280859
RCV003224855
dbSNP Id:
rs587776650
ExAC:
8:90983441 ATTTGT / A
gnomAD v2:
8-90983441-ATTTGT-A
gnomAD v3:
8-89971213-ATTTGT-A
gnomAD v4:
8-89971213-ATTTGT-A
COSMIC:
COSM1740923
MyVariant Identifiers:
chr8:g.90983442_90983446del (hg19)
chr8:g.89971215_89971219del (hg38)
chr8:g.89971214_89971218del (hg38)
PubMed:
PMID:9590180
PMID:9620777
PMID:10398434
PMID:10852373
PMID:11093281
PMID:11279524
PMID:11953735
PMID:12123493
PMID:12505263
PMID:12833396
PMID:14973119
PMID:15185344
PMID:16033915
PMID:16544999
PMID:17103455
PMID:18940477
PMID:19635536
PMID:19908051
PMID:20301355
PMID:20444919
PMID:22131123
PMID:22293976
PMID:23765759
PMID:24113799
PMID:25186627
PMID:25485873
PMID:25980754
PMID:26083025
PMID:26681312
PMID:26822949
PMID:26845104
PMID:27150568
PMID:27616075
PMID:28376765
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89971217_89971221del , CM000670.2:g.89971217_89971221del | GRCh38 |
| NC_000008.10:g.90983445_90983449del , CM000670.1:g.90983445_90983449del | GRCh37 |
| NC_000008.9:g.91052621_91052625del | NCBI36 |
| NG_008860.1:g.18454_18458del , LRG_158:g.18454_18458del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.1959_1963del | ||
| ENST00000517337.2:c.411_415del | ENSP00000429971.2:p.Lys137AsnfsTer16 | |
| ENST00000523444.2:c.411_415del | ENSP00000428252.2:p.Lys137AsnfsTer16 | |
| ENST00000697292.1:c.657_661del | ENSP00000513229.1:p.Lys219AsnfsTer16 | |
| ENST00000697293.1:c.657_661del | ENSP00000513230.1:p.Lys219AsnfsTer16 | |
| ENST00000697294.1:c.*268_*272del | ENSP00000513231.1:n.*268_*272del | |
| ENST00000697295.1:c.110_114del | ENSP00000513232.1:p.Asn37IlefsTer? | |
| ENST00000697296.1:c.*325_*329del | ENSP00000513233.1:n.*325_*329del | |
| ENST00000697297.1:n.2442_2446del | ||
| ENST00000697298.1:c.411_415del | ENSP00000513234.1:p.Lys137AsnfsTer16 | |
| ENST00000697299.1:c.411_415del | ENSP00000513235.1:p.Lys137AsnfsTer16 | |
| ENST00000697300.1:c.*261_*265del | ENSP00000513236.1:n.*261_*265del | |
| ENST00000697301.1:c.*178_*182del | ENSP00000513237.1:n.*178_*182del | |
| ENST00000697302.1:c.*178_*182del | ENSP00000513238.1:n.*178_*182del | |
| ENST00000697303.1:c.*261_*265del | ENSP00000513239.1:n.*261_*265del | |
| ENST00000697304.1:c.585-6711_585-6707del | ENSP00000513240.1:n.585-6711_585-6707del | |
| ENST00000697306.1:c.480+9516_480+9520del | ENSP00000513241.1:n.480+9516_480+9520del | |
| ENST00000697307.1:c.657_661del | ENSP00000513242.1:p.Lys219AsnfsTer16 | |
| ENST00000697308.1:c.657_661del | ENSP00000513243.1:p.Lys219AsnfsTer16 | |
| ENST00000697309.1:c.657_661del | ENSP00000513244.1:p.Lys219AsnfsTer16 | |
| ENST00000697310.1:c.657_661del | ENSP00000513245.1:p.Lys219AsnfsTer16 | |
| ENST00000697311.1:c.657_661del | ENSP00000513246.1:p.Lys219AsnfsTer16 | |
| ENST00000697312.1:c.*55_*59del | ENSP00000513247.1:n.*55_*59del | |
| ENST00000697313.1:n.2448_2452del | ||
| ENST00000697314.1:n.2448_2452del | ||
| ENST00000697315.1:c.657_661del | ENSP00000513248.1:p.Lys219AsnfsTer16 | |
| ENST00000697316.1:n.778_782del | ||
| ENST00000697317.1:n.767_771del | ||
| ENST00000697318.1:n.769_773del | ||
| ENST00000265433.8:c.657_661del MANE Select | ENSP00000265433.4:p.Lys219AsnfsTer16 | |
| ENST00000265433.7:c.657_661del | ENSP00000265433.3:p.Lys219AsnfsTer16 | |
| ENST00000396252.6:c.*530_*534del | ENSP00000379551.2:n.*530_*534del | |
| ENST00000409330.5:c.411_415del | ENSP00000386924.1:p.Lys137AsnfsTer16 | |
| ENST00000517772.5:c.411_415del | ENSP00000428717.1:p.Lys137AsnfsTer16 | |
| ENST00000519426.5:c.393_397del | ENSP00000430983.1:p.Lys131AsnfsTer16 | |
| NM_001024688.2:c.411_415del | NP_001019859.1:p.Lys137AsnfsTer16 | |
| NM_002485.4:c.657_661del , LRG_158t1:c.657_661del | NP_002476.2:p.Lys219AsnfsTer16 | |
| XM_011517044.1:c.633_637del | XP_011515346.1:p.Lys211AsnfsTer16 | |
| XM_011517045.1:c.411_415del | XP_011515347.1:p.Lys137AsnfsTer16 | |
| XM_011517046.1:c.657_661del | XP_011515348.1:p.Lys219AsnfsTer16 | |
| XR_928335.1:n.794_798del | ||
| XM_017013460.1:c.-223_-219del | XP_016868949.1:n.-223_-219del | |
| XM_017013462.2:c.-223_-219del | XP_016868951.1:n.-223_-219del | |
| XM_024447163.1:c.411_415del | XP_024302931.1:p.Lys137AsnfsTer16 | |
| XM_024447164.1:c.411_415del | XP_024302932.1:p.Lys137AsnfsTer16 | |
| XM_024447165.1:c.-223_-219del | XP_024302933.1:n.-223_-219del | |
| NM_002485.5:c.657_661del MANE Select | NP_002476.2:p.Lys219AsnfsTer16 | |
| NM_001024688.3:c.411_415del | NP_001019859.1:p.Lys137AsnfsTer16 |