Linked Data
ClinVar Variation Id:
371009
ClinVar RCV Id:
RCV000410186
dbSNP Id:
rs867341758
gnomAD v3:
1-99910824-CAG-C
gnomAD v4:
1-99910824-CAG-C
MyVariant Identifiers:
chr1:g.100376383_100376384del (hg19)
chr1:g.100376381_100376382del (hg19)
chr1:g.99910827_99910828del (hg38)
chr1:g.99910826_99910827del (hg38)
chr1:g.99910825_99910826del (hg38)
PubMed:
PMID:10982190
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99910827_99910828del , CM000663.2:g.99910827_99910828del | GRCh38 |
| NC_000001.10:g.100376383_100376384del , CM000663.1:g.100376383_100376384del | GRCh37 |
| NC_000001.9:g.100148971_100148972del | NCBI36 |
| NG_012865.1:g.65744_65745del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.3816_3817del MANE Select | ENSP00000355106.3:p.Gly1273AsnfsTer18 | |
| ENST00000637337.1:n.4027_4028del | ||
| ENST00000294724.8:c.3816_3817del | ENSP00000294724.4:p.Gly1273AsnfsTer18 | |
| ENST00000361302.7:c.3768_3769del | ENSP00000354971.3:p.Gly1257AsnfsTer18 | |
| ENST00000361522.4:c.3765_3766del | ENSP00000354635.4:p.Gly1256AsnfsTer18 | |
| ENST00000361915.7:c.3816_3817del | ENSP00000355106.3:p.Gly1273AsnfsTer18 | |
| ENST00000370161.6:c.3768_3769del | ENSP00000359180.2:p.Gly1257AsnfsTer18 | |
| ENST00000370163.7:c.3816_3817del | ENSP00000359182.3:p.Gly1273AsnfsTer18 | |
| ENST00000370165.7:c.3816_3817del | ENSP00000359184.3:p.Gly1273AsnfsTer18 | |
| NM_000028.2:c.3816_3817del | NP_000019.2:p.Gly1273AsnfsTer18 | |
| NM_000642.2:c.3816_3817del | NP_000633.2:p.Gly1273AsnfsTer18 | |
| NM_000643.2:c.3816_3817del | NP_000634.2:p.Gly1273AsnfsTer18 | |
| NM_000644.2:c.3816_3817del | NP_000635.2:p.Gly1273AsnfsTer18 | |
| NM_000645.2:c.3765_3766del | NP_000636.2:p.Gly1256AsnfsTer18 | |
| NM_000646.2:c.3768_3769del | NP_000637.2:p.Gly1257AsnfsTer18 | |
| XM_005270557.1:c.3816_3817del | XP_005270614.1:p.Gly1273AsnfsTer18 | |
| XM_005270557.2:c.3816_3817del | XP_005270614.1:p.Gly1273AsnfsTer18 | |
| XM_017000501.2:c.2076_2077del | XP_016855990.1:p.Gly693AsnfsTer18 | |
| NM_000642.3:c.3816_3817del MANE Select | NP_000633.2:p.Gly1273AsnfsTer18 |