Canonical Allele Identifier: CA281477

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74060498del , CM000669.2:g.74060498del GRCh38
NC_000007.13:g.73474828del , CM000669.1:g.73474828del GRCh37
NC_000007.12:g.73112764del NCBI36
NG_009261.1:g.37402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1831del (ELN) ENSP00000510104.1:p.Ala611GlnfsTer?
ENST00000252034.12:c.1744del (ELN) MANE Select ENSP00000252034.7:p.Ala582GlnfsTer?
ENST00000252034.11:c.1744del (ELN) ENSP00000252034.7:p.Ala582GlnfsTer?
ENST00000320399.10:c.1744del (ELN) ENSP00000313565.6:p.Ala582GlnfsTer?
ENST00000320492.11:c.1501del (ELN) ENSP00000315607.7:p.Ala501GlnfsTer?
ENST00000357036.9:c.1759del (ELN) ENSP00000349540.5:p.Ala587GlnfsTer?
ENST00000358929.8:c.1831del (ELN) ENSP00000351807.5:p.Ala611GlnfsTer?
ENST00000380553.8:c.1336del (ELN) ENSP00000369926.4:p.Ala446GlnfsTer?
ENST00000380562.8:c.1762del (ELN) ENSP00000369936.4:p.Ala588GlnfsTer?
ENST00000380575.8:c.1657del (ELN) ENSP00000369949.4:p.Ala553GlnfsTer?
ENST00000380576.9:c.1687del (ELN) ENSP00000369950.5:p.Ala563GlnfsTer?
ENST00000380584.8:c.1600del (ELN) ENSP00000369958.4:p.Ala534GlnfsTer?
ENST00000414324.5:c.1672del (ELN) ENSP00000392575.1:p.Ala558GlnfsTer?
ENST00000429192.5:c.1702del (ELN) ENSP00000391129.1:p.Ala568GlnfsTer?
ENST00000445912.5:c.1744del (ELN) ENSP00000389857.1:p.Ala582GlnfsTer?
ENST00000458204.5:c.1714del (ELN) ENSP00000403162.1:p.Ala572GlnfsTer?
ENST00000621115.4:c.1477del (ELN) ENSP00000480955.1:p.Ala493GlnfsTer?
NM_000501.3:c.1744del (ELN) NP_000492.2:p.Ala582GlnfsTer?
NM_001081752.2:c.1657del (ELN) NP_001075221.1:p.Ala553GlnfsTer?
NM_001081753.2:c.1702del (ELN) NP_001075222.1:p.Ala568GlnfsTer?
NM_001081754.2:c.1759del (ELN) NP_001075223.1:p.Ala587GlnfsTer?
NM_001081755.2:c.1687del (ELN) NP_001075224.1:p.Ala563GlnfsTer?
NM_001278912.1:c.1744del (ELN) NP_001265841.1:p.Ala582GlnfsTer?
NM_001278913.1:c.1501del (ELN) NP_001265842.1:p.Ala501GlnfsTer?
NM_001278914.1:c.1672del (ELN) NP_001265843.1:p.Ala558GlnfsTer?
NM_001278915.1:c.1762del (ELN) NP_001265844.1:p.Ala588GlnfsTer?
NM_001278916.1:c.1600del (ELN) NP_001265845.1:p.Ala534GlnfsTer?
NM_001278917.1:c.1714del (ELN) NP_001265846.1:p.Ala572GlnfsTer?
NM_001278918.1:c.1477del (ELN) NP_001265847.1:p.Ala493GlnfsTer?
NM_001278939.1:c.1831del (ELN) NP_001265868.1:p.Ala611GlnfsTer?
XM_005250187.1:c.1708del (ELN) XP_005250244.1:p.Ala570GlnfsTer?
XM_005250188.1:c.1702del (ELN) XP_005250245.1:p.Ala568GlnfsTer?
XM_011515868.1:c.1759del (ELN) XP_011514170.1:p.Ala587GlnfsTer?
XM_011515869.1:c.1729del (ELN) XP_011514171.1:p.Ala577GlnfsTer?
XM_011515870.1:c.1723del (ELN) XP_011514172.1:p.Ala575GlnfsTer?
XM_011515871.1:c.1717del (ELN) XP_011514173.1:p.Ala573GlnfsTer?
XM_011515872.1:c.1705del (ELN) XP_011514174.1:p.Ala569GlnfsTer?
XM_011515873.1:c.1702del (ELN) XP_011514175.1:p.Ala568GlnfsTer?
XM_011515874.1:c.1693del (ELN) XP_011514176.1:p.Ala565GlnfsTer?
XM_011515875.1:c.1678del (ELN) XP_011514177.1:p.Ala560GlnfsTer?
XM_011515876.1:c.1759del (ELN) XP_011514178.1:p.Ala587GlnfsTer?
XM_011515877.1:c.1648del (ELN) XP_011514179.1:p.Ala550GlnfsTer?
XM_005250187.2:c.1708del (ELN) XP_005250244.1:p.Ala570GlnfsTer?
XM_005250188.2:c.1702del (ELN) XP_005250245.1:p.Ala568GlnfsTer?
XM_011515868.2:c.1759del (ELN) XP_011514170.1:p.Ala587GlnfsTer?
XM_011515871.2:c.1717del (ELN) XP_011514173.1:p.Ala573GlnfsTer?
XM_011515872.2:c.1705del (ELN) XP_011514174.1:p.Ala569GlnfsTer?
XM_011515873.2:c.1702del (ELN) XP_011514175.1:p.Ala568GlnfsTer?
XM_011515875.2:c.1678del (ELN) XP_011514177.1:p.Ala560GlnfsTer?
XM_011515876.2:c.1759del (ELN) XP_011514178.1:p.Ala587GlnfsTer?
XM_011515877.2:c.1648del (ELN) XP_011514179.1:p.Ala550GlnfsTer?
XM_017011813.1:c.1672del (ELN) XP_016867302.1:p.Ala558GlnfsTer?
XM_017011814.2:c.1660del (ELN) XP_016867303.1:p.Ala554GlnfsTer?
XR_001745243.1:n.76-463del (ELN-AS1)
NM_000501.4:c.1744del (ELN) MANE Select NP_000492.2:p.Ala582GlnfsTer?
NM_001081752.3:c.1657del (ELN) NP_001075221.1:p.Ala553GlnfsTer?
NM_001081753.3:c.1702del (ELN) NP_001075222.1:p.Ala568GlnfsTer?
NM_001081754.3:c.1759del (ELN) NP_001075223.1:p.Ala587GlnfsTer?
NM_001081755.3:c.1687del (ELN) NP_001075224.1:p.Ala563GlnfsTer?
NM_001278912.2:c.1744del (ELN) NP_001265841.1:p.Ala582GlnfsTer?
NM_001278913.2:c.1501del (ELN) NP_001265842.1:p.Ala501GlnfsTer?
NM_001278914.2:c.1672del (ELN) NP_001265843.1:p.Ala558GlnfsTer?
NM_001278915.2:c.1762del (ELN) NP_001265844.1:p.Ala588GlnfsTer?
NM_001278916.2:c.1600del (ELN) NP_001265845.1:p.Ala534GlnfsTer?
NM_001278917.2:c.1714del (ELN) NP_001265846.1:p.Ala572GlnfsTer?
NM_001278918.2:c.1477del (ELN) NP_001265847.1:p.Ala493GlnfsTer?
NM_001278939.2:c.1831del (ELN) NP_001265868.1:p.Ala611GlnfsTer?