Linked Data
ClinVar Variation Id:
59
ClinVar RCV Id:
RCV000000076
dbSNP Id:
rs397515336
gnomAD v2:
1-243589818-AGTGT-A
gnomAD v4:
1-243426516-AGTGT-A
MyVariant Identifiers:
chr1:g.243589821_243589824del (hg19)
chr1:g.243589819_243589822del (hg19)
chr1:g.243426519_243426522del (hg38)
chr1:g.243426517_243426520del (hg38)
PubMed:
PMID:20835237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243426519_243426522del , CM000663.2:g.243426519_243426522del | GRCh38 |
| NC_000001.10:g.243589821_243589824del , CM000663.1:g.243589821_243589824del | GRCh37 |
| NC_000001.9:g.241656444_241656447del | NCBI36 |
| NG_027811.1:g.175515_175518del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366541.8:c.1946_1949del MANE Select | ENSP00000355499.3:p.Cys649SerfsTer10 | |
| ENST00000366541.7:c.1946_1949del | ENSP00000355499.3:p.Cys649SerfsTer10 | |
| ENST00000435549.1:c.1049_1052del | ENSP00000410200.1:p.Cys350SerfsTer10 | |
| ENST00000463042.1:n.153_156del | ||
| NM_006642.3:c.1946_1949del | NP_006633.1:p.Cys649SerfsTer10 | |
| XM_005273013.3:c.1817_1820del | XP_005273070.1:p.Cys606SerfsTer10 | |
| XM_005273018.1:c.1523_1526del | XP_005273075.1:p.Cys508SerfsTer10 | |
| XM_005273021.3:c.1043_1046del | XP_005273078.1:p.Cys348SerfsTer10 | |
| XM_005273022.2:c.1025_1028del | XP_005273079.1:p.Cys342SerfsTer10 | |
| XM_006711727.2:c.1976_1979del | XP_006711790.1:p.Cys659SerfsTer10 | |
| XM_006711728.2:c.1847_1850del | XP_006711791.1:p.Cys616SerfsTer10 | |
| XM_006711729.2:c.1787_1790del | XP_006711792.1:p.Cys596SerfsTer10 | |
| XM_011544021.1:c.2072_2075del | XP_011542323.1:p.Cys691SerfsTer10 | |
| XM_011544022.1:c.2042_2045del | XP_011542324.1:p.Cys681SerfsTer10 | |
| XM_011544023.1:c.2072_2075del | XP_011542325.1:p.Cys691SerfsTer10 | |
| XM_011544024.1:c.2072_2075del | XP_011542326.1:p.Cys691SerfsTer10 | |
| XM_011544025.1:c.1883_1886del | XP_011542327.1:p.Cys628SerfsTer10 | |
| XM_011544026.1:c.1835_1838del | XP_011542328.1:p.Cys612SerfsTer10 | |
| XM_011544027.1:c.1658_1661del | XP_011542329.1:p.Cys553SerfsTer10 | |
| XM_011544028.1:c.1610_1613del | XP_011542330.1:p.Cys537SerfsTer10 | |
| XM_011544030.1:c.1001_1004del | XP_011542332.1:p.Cys334SerfsTer10 | |
| XR_949128.1:n.2096_2099del | ||
| NM_001350246.1:c.1043_1046del | NP_001337175.1:p.Cys348SerfsTer10 | |
| NM_001350247.1:c.1043_1046del | NP_001337176.1:p.Cys348SerfsTer10 | |
| NM_001350248.1:c.2042_2045del | NP_001337177.1:p.Cys681SerfsTer10 | |
| NM_001350249.1:c.1652_1655del | NP_001337178.1:p.Cys551SerfsTer10 | |
| NM_001350251.1:c.1043_1046del | NP_001337180.1:p.Cys348SerfsTer10 | |
| NM_006642.4:c.1946_1949del | NP_006633.1:p.Cys649SerfsTer10 | |
| XM_005273013.5:c.1817_1820del | XP_005273070.1:p.Cys606SerfsTer10 | |
| XM_005273018.2:c.1523_1526del | XP_005273075.1:p.Cys508SerfsTer10 | |
| XM_005273022.4:c.1025_1028del | XP_005273079.1:p.Cys342SerfsTer10 | |
| XM_011544026.3:c.1835_1838del | XP_011542328.1:p.Cys612SerfsTer10 | |
| XM_011544028.3:c.1610_1613del | XP_011542330.1:p.Cys537SerfsTer10 | |
| XM_011544030.3:c.1001_1004del | XP_011542332.1:p.Cys334SerfsTer10 | |
| XM_017000104.2:c.1817_1820del | XP_016855593.1:p.Cys606SerfsTer10 | |
| XM_017000105.2:c.1709_1712del | XP_016855594.1:p.Cys570SerfsTer10 | |
| XM_024452537.1:c.1748_1751del | XP_024308305.1:p.Cys583SerfsTer10 | |
| XM_024452539.1:c.1748_1751del | XP_024308307.1:p.Cys583SerfsTer10 | |
| XM_024452540.1:c.1748_1751del | XP_024308308.1:p.Cys583SerfsTer10 | |
| XM_024452547.1:c.1652_1655del | XP_024308315.1:p.Cys551SerfsTer10 | |
| XM_024452548.1:c.1748_1751del | XP_024308316.1:p.Cys583SerfsTer10 | |
| XM_024452549.1:c.1415_1418del | XP_024308317.1:p.Cys472SerfsTer10 | |
| XR_002958955.1:n.1988_1991del | ||
| XR_002958956.1:n.1988_1991del | ||
| XR_002958965.1:n.1879_1882del | ||
| NM_006642.5:c.1946_1949del MANE Select | NP_006633.1:p.Cys649SerfsTer10 | |
| NM_001350246.2:c.1043_1046del | NP_001337175.1:p.Cys348SerfsTer10 | |
| NM_001350247.2:c.1043_1046del | NP_001337176.1:p.Cys348SerfsTer10 | |
| NM_001350248.2:c.2042_2045del | NP_001337177.1:p.Cys681SerfsTer10 | |
| NM_001350249.2:c.1652_1655del | NP_001337178.1:p.Cys551SerfsTer10 | |
| NM_001350251.2:c.1043_1046del | NP_001337180.1:p.Cys348SerfsTer10 |