UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1194542
ClinVar RCV Id:
RCV001557318
dbSNP Id:
rs2154255332
gnomAD v4:
2-229787504-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229787511del , CM000664.2:g.229787511del | GRCh38 |
| NC_000002.11:g.230652227del , CM000664.1:g.230652227del | GRCh37 |
| NC_000002.10:g.230360471del | NCBI36 |
| NG_053017.1:g.140730del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430954.6:c.4818del | ENSP00000389827.2:p.Lys1606AsnfsTer4 | |
| ENST00000453485.2:c.4827del | ENSP00000400967.2:p.Lys1609AsnfsTer4 | |
| ENST00000704577.1:c.4995del | ENSP00000515952.1:p.Lys1665AsnfsTer4 | |
| ENST00000704578.1:c.4854del | ENSP00000515953.1:p.Lys1618AsnfsTer4 | |
| ENST00000704579.1:c.*3159del | ENSP00000515954.1:n.*3159del | |
| ENST00000704580.1:c.4869del | ENSP00000515955.1:p.Lys1623AsnfsTer4 | |
| ENST00000704581.1:c.4983del | ENSP00000515956.1:p.Lys1661AsnfsTer4 | |
| ENST00000704582.1:c.649del | ||
| ENST00000704583.1:c.*2479del | ENSP00000515958.1:n.*2479del | |
| ENST00000704584.1:c.4718del | ||
| ENST00000704585.1:c.4773del | ENSP00000515960.1:p.Lys1591AsnfsTer4 | |
| ENST00000675423.1:c.4995del | ENSP00000502768.1:p.Lys1665AsnfsTer4 | |
| ENST00000675453.1:c.4998del | ENSP00000502271.1:p.Lys1666AsnfsTer4 | |
| ENST00000675903.1:c.4995del MANE Select | ENSP00000502713.1:p.Lys1665AsnfsTer4 | |
| ENST00000283943.9:c.4770del | ENSP00000283943.4:p.Lys1590AsnfsTer4 | |
| ENST00000389044.8:c.4914del | ENSP00000373696.4:p.Lys1638AsnfsTer4 | |
| ENST00000389045.7:c.3960del | ENSP00000373697.3:p.Lys1320AsnfsTer4 | |
| NM_001284214.1:c.4914del | NP_001271143.1:p.Lys1638AsnfsTer4 | |
| NM_001284215.1:c.4869del | NP_001271144.1:p.Lys1623AsnfsTer4 | |
| NM_001284216.1:c.3960del | NP_001271145.1:p.Lys1320AsnfsTer4 | |
| NM_004238.2:c.4770del | NP_004229.1:p.Lys1590AsnfsTer4 | |
| XM_005246954.3:c.4998del | XP_005247011.1:p.Lys1666AsnfsTer4 | |
| XM_005246955.3:c.4998del | XP_005247012.1:p.Lys1666AsnfsTer4 | |
| XM_005246956.3:c.4995del | XP_005247013.1:p.Lys1665AsnfsTer4 | |
| XM_005246957.3:c.4983del | XP_005247014.1:p.Lys1661AsnfsTer4 | |
| XM_005246958.3:c.4917del | XP_005247015.1:p.Lys1639AsnfsTer4 | |
| XM_005246960.3:c.4911del | XP_005247017.1:p.Lys1637AsnfsTer4 | |
| XM_005246961.2:c.4872del | XP_005247018.1:p.Lys1624AsnfsTer4 | |
| XM_005246962.3:c.4869del | XP_005247019.1:p.Lys1623AsnfsTer4 | |
| XM_005246963.3:c.4998del | XP_005247020.1:p.Lys1666AsnfsTer4 | |
| XM_006712852.2:c.4872del | XP_006712915.1:p.Lys1624AsnfsTer4 | |
| XM_006712853.2:c.4788del | XP_006712916.1:p.Lys1596AsnfsTer4 | |
| XM_011512180.1:c.4998del | XP_011510482.1:p.Lys1666AsnfsTer4 | |
| XM_011512181.1:c.4998del | XP_011510483.1:p.Lys1666AsnfsTer4 | |
| XM_011512182.1:c.4998del | XP_011510484.1:p.Lys1666AsnfsTer4 | |
| XM_011512183.1:c.4872del | XP_011510485.1:p.Lys1624AsnfsTer4 | |
| XM_011512184.1:c.4998del | XP_011510486.1:p.Lys1666AsnfsTer4 | |
| NM_001284215.2:c.4869del | NP_001271144.1:p.Lys1623AsnfsTer4 | |
| NM_001348315.1:c.4914del | NP_001335244.1:p.Lys1638AsnfsTer4 | |
| NM_001348316.1:c.4869del | NP_001335245.1:p.Lys1623AsnfsTer4 | |
| NM_001348317.1:c.4854del | NP_001335246.1:p.Lys1618AsnfsTer4 | |
| NM_001348318.1:c.4854del | NP_001335247.1:p.Lys1618AsnfsTer4 | |
| NM_001348319.1:c.4980del | NP_001335248.1:p.Lys1660AsnfsTer4 | |
| NM_001348320.1:c.4980del | NP_001335249.1:p.Lys1660AsnfsTer4 | |
| NM_001348321.1:c.4983del | NP_001335250.1:p.Lys1661AsnfsTer4 | |
| NM_001348322.1:c.4995del | NP_001335251.1:p.Lys1665AsnfsTer4 | |
| NM_001348323.1:c.4995del | NP_001335252.1:p.Lys1665AsnfsTer4 | |
| NM_001348324.1:c.4995del | NP_001335253.1:p.Lys1665AsnfsTer4 | |
| NM_001348325.1:c.4995del | NP_001335254.1:p.Lys1665AsnfsTer4 | |
| NM_001348326.1:c.4995del | NP_001335255.1:p.Lys1665AsnfsTer4 | |
| NM_001348327.1:c.4995del | NP_001335256.1:p.Lys1665AsnfsTer4 | |
| NM_001348328.1:c.4998del | NP_001335257.1:p.Lys1666AsnfsTer4 | |
| NM_001348329.1:c.4998del | NP_001335258.1:p.Lys1666AsnfsTer4 | |
| NM_001348330.1:c.4998del | NP_001335259.1:p.Lys1666AsnfsTer4 | |
| NM_001348331.1:c.4773del | NP_001335260.1:p.Lys1591AsnfsTer4 | |
| NM_001348332.1:c.4893del | NP_001335261.1:p.Lys1631AsnfsTer4 | |
| NM_001348333.1:c.4917del | NP_001335262.1:p.Lys1639AsnfsTer4 | |
| XM_005246961.4:c.4872del | XP_005247018.1:p.Lys1624AsnfsTer4 | |
| XM_017005283.2:c.4899del | XP_016860772.1:p.Lys1633AsnfsTer4 | |
| XM_017005289.2:c.4830del | XP_016860778.1:p.Lys1610AsnfsTer4 | |
| XM_017005290.2:c.4827del | XP_016860779.1:p.Lys1609AsnfsTer4 | |
| XM_024453223.1:c.5070del | XP_024308991.1:p.Lys1690AsnfsTer4 | |
| XM_024453224.1:c.5070del | XP_024308992.1:p.Lys1690AsnfsTer4 | |
| XM_024453225.1:c.5070del | XP_024308993.1:p.Lys1690AsnfsTer4 | |
| XM_024453226.1:c.5070del | XP_024308994.1:p.Lys1690AsnfsTer4 | |
| XM_024453227.1:c.5070del | XP_024308995.1:p.Lys1690AsnfsTer4 | |
| XM_024453228.1:c.5070del | XP_024308996.1:p.Lys1690AsnfsTer4 | |
| XM_024453229.1:c.5067del | XP_024308997.1:p.Lys1689AsnfsTer4 | |
| XM_024453230.1:c.5067del | XP_024308998.1:p.Lys1689AsnfsTer4 | |
| XM_024453231.1:c.4989del | XP_024308999.1:p.Lys1663AsnfsTer4 | |
| XM_024453232.1:c.4986del | XP_024309000.1:p.Lys1662AsnfsTer4 | |
| XM_024453233.1:c.4983del | XP_024309001.1:p.Lys1661AsnfsTer4 | |
| XM_024453234.1:c.4983del | XP_024309002.1:p.Lys1661AsnfsTer4 | |
| XM_024453235.1:c.4983del | XP_024309003.1:p.Lys1661AsnfsTer4 | |
| XM_024453236.1:c.4944del | XP_024309004.1:p.Lys1648AsnfsTer4 | |
| XM_024453237.1:c.4944del | XP_024309005.1:p.Lys1648AsnfsTer4 | |
| XM_024453238.1:c.4944del | XP_024309006.1:p.Lys1648AsnfsTer4 | |
| XM_024453239.1:c.4944del | XP_024309007.1:p.Lys1648AsnfsTer4 | |
| XM_024453240.1:c.4944del | XP_024309008.1:p.Lys1648AsnfsTer4 | |
| XM_024453241.1:c.4941del | XP_024309009.1:p.Lys1647AsnfsTer4 | |
| XM_024453242.1:c.4857del | XP_024309010.1:p.Lys1619AsnfsTer4 | |
| XM_024453243.1:c.4788del | XP_024309011.1:p.Lys1596AsnfsTer4 | |
| NM_001284214.2:c.4914del | NP_001271143.1:p.Lys1638AsnfsTer4 | |
| NM_001284216.2:c.3960del | NP_001271145.1:p.Lys1320AsnfsTer4 | |
| NM_001348315.2:c.4914del | NP_001335244.1:p.Lys1638AsnfsTer4 | |
| NM_001348316.2:c.4869del | NP_001335245.1:p.Lys1623AsnfsTer4 | |
| NM_001348318.2:c.4854del | NP_001335247.1:p.Lys1618AsnfsTer4 | |
| NM_001348320.2:c.4980del | NP_001335249.1:p.Lys1660AsnfsTer4 | |
| NM_001348323.2:c.4995del | NP_001335252.1:p.Lys1665AsnfsTer4 | |
| NM_001348324.2:c.4995del | NP_001335253.1:p.Lys1665AsnfsTer4 | |
| NM_001348325.2:c.4995del | NP_001335254.1:p.Lys1665AsnfsTer4 | |
| NM_001348326.2:c.4995del | NP_001335255.1:p.Lys1665AsnfsTer4 | |
| NM_001348327.2:c.4995del | NP_001335256.1:p.Lys1665AsnfsTer4 | |
| NM_001348329.2:c.4998del | NP_001335258.1:p.Lys1666AsnfsTer4 | |
| NM_001348330.2:c.4998del | NP_001335259.1:p.Lys1666AsnfsTer4 | |
| NM_004238.3:c.4770del | NP_004229.1:p.Lys1590AsnfsTer4 | |
| NM_001348323.3:c.4995del MANE Select | NP_001335252.1:p.Lys1665AsnfsTer4 |