Canonical Allele Identifier: CA431937270
Gene: LRRFIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.238672541del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237763900del , CM000664.2:g.237763900del GRCh38
NC_000002.11:g.238672543del , CM000664.1:g.238672543del GRCh37
NC_000002.10:g.238337282del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000698097.1:c.1181+3695del
ENST00000698098.1:c.955+3695del ENSP00000513562.1:n.955+3695del
ENST00000308482.14:c.1459+3695del MANE Select ENSP00000310109.9:n.1459+3695del
ENST00000244815.9:c.2115del ENSP00000244815.5:p.Glu706AsnfsTer?
ENST00000289175.10:c.2019del ENSP00000289175.6:p.Glu674AsnfsTer?
ENST00000308482.13:c.1459+3695del ENSP00000310109.9:n.1459+3695del
ENST00000392000.4:c.2187del ENSP00000375857.4:p.Glu730AsnfsTer?
ENST00000483443.1:n.235+3695del
NM_001137550.1:c.1459+3695del NP_001131022.1:n.1459+3695del
NM_001137551.1:c.721+3695del NP_001131023.1:n.721+3695del
NM_001137552.1:c.2187del NP_001131024.1:p.Glu730AsnfsTer?
NM_001137553.1:c.2019del NP_001131025.1:p.Glu674AsnfsTer?
NM_004735.3:c.2115del NP_004726.2:p.Glu706AsnfsTer?
XM_005246112.3:c.2820del XP_005246169.1:p.Glu941AsnfsTer?
XM_005246115.3:c.2775del XP_005246172.1:p.Glu926AsnfsTer?
XM_005246116.3:c.2757del XP_005246173.1:p.Glu920AsnfsTer?
XM_005246118.3:c.2712del XP_005246175.1:p.Glu905AsnfsTer?
XM_005246119.3:c.2709del XP_005246176.1:p.Glu904AsnfsTer?
XM_005246120.3:c.2673del XP_005246177.1:p.Glu892AsnfsTer?
XM_005246121.3:c.2658del XP_005246178.1:p.Glu887AsnfsTer?
XM_005246122.3:c.2646del XP_005246179.1:p.Glu883AsnfsTer?
XM_005246124.1:c.2628del XP_005246181.1:p.Glu877AsnfsTer?
XM_005246125.3:c.2607del XP_005246182.1:p.Glu870AsnfsTer?
XM_005246126.3:c.2568del XP_005246183.1:p.Glu857AsnfsTer?
XM_005246128.1:c.2535del XP_005246185.1:p.Glu846AsnfsTer?
XM_005246129.3:c.2496del XP_005246186.1:p.Glu833AsnfsTer?
XM_005246130.3:c.2469del XP_005246187.1:p.Glu824AsnfsTer?
XM_005246131.3:c.2382del XP_005246188.1:p.Glu795AsnfsTer?
XM_005246132.3:c.2307del XP_005246189.1:p.Glu770AsnfsTer?
XM_005246133.1:c.2277del XP_005246190.1:p.Glu760AsnfsTer?
XM_005246134.1:c.2235del XP_005246191.1:p.Glu746AsnfsTer?
XM_005246135.1:c.2205del XP_005246192.1:p.Glu736AsnfsTer?
XM_005246136.1:c.2049del XP_005246193.1:p.Glu684AsnfsTer?
XM_005246141.3:c.823+3695del XP_005246198.1:n.823+3695del
XM_005246142.1:c.751+3695del XP_005246199.1:n.751+3695del
XM_006712842.2:c.2718del XP_006712905.1:p.Glu907AsnfsTer?
XM_006712843.2:c.2613del XP_006712906.1:p.Glu872AsnfsTer?
XM_006712844.1:c.2547del XP_006712907.1:p.Glu850AsnfsTer?
XM_006712845.2:c.2529del XP_006712908.1:p.Glu844AsnfsTer?
XM_006712846.1:c.2433del XP_006712909.1:p.Glu812AsnfsTer?
XM_006712847.1:c.2373del XP_006712910.1:p.Glu792AsnfsTer?
XM_006712848.1:c.2301del XP_006712911.1:p.Glu768AsnfsTer?
XM_011512152.1:c.2853del XP_011510454.1:p.Glu952AsnfsTer?
XM_011512153.1:c.2835del XP_011510455.1:p.Glu946AsnfsTer?
XM_011512154.1:c.2823del XP_011510456.1:p.Glu942AsnfsTer?
XM_011512155.1:c.2814del XP_011510457.1:p.Glu939AsnfsTer?
XM_011512156.1:c.2781del XP_011510458.1:p.Glu928AsnfsTer?
XM_011512157.1:c.2667del XP_011510459.1:p.Glu890AsnfsTer?
XM_011512158.1:c.2595del XP_011510460.1:p.Glu866AsnfsTer?
XM_011512159.1:c.2403del XP_011510461.1:p.Glu802AsnfsTer?
XM_011512160.1:c.1555+3695del XP_011510462.1:n.1555+3695del
XM_011512161.1:c.1555+3695del XP_011510463.1:n.1555+3695del
XM_011512162.1:c.1369+3695del XP_011510464.1:n.1369+3695del
XM_011512163.1:c.1297+3695del XP_011510465.1:n.1297+3695del
XM_011512164.1:c.751+3695del XP_011510466.1:n.751+3695del
XM_011512165.1:c.721+3695del XP_011510467.1:n.721+3695del
XM_011512166.1:c.1516+3695del XP_011510468.1:n.1516+3695del
XR_923063.1:n.1605+3695del
XM_005246141.4:c.823+3695del XP_005246198.1:n.823+3695del
XM_005246142.2:c.751+3695del XP_005246199.1:n.751+3695del
XM_017005253.2:c.1522+3695del XP_016860742.1:n.1522+3695del
XM_017005254.2:c.1522+3695del XP_016860743.1:n.1522+3695del
XM_017005255.2:c.1450+3695del XP_016860744.1:n.1450+3695del
XM_017005256.2:c.1336+3695del XP_016860745.1:n.1336+3695del
XM_017005257.2:c.1387+3695del XP_016860746.1:n.1387+3695del
XM_017005258.2:c.1336+3695del XP_016860747.1:n.1336+3695del
XM_017005260.2:c.1162+3695del XP_016860749.1:n.1162+3695del
XM_017005261.2:c.1099+3695del XP_016860750.1:n.1099+3695del
XM_017005262.2:c.1099+3695del XP_016860751.1:n.1099+3695del
XM_017005263.2:c.937+3695del XP_016860752.1:n.937+3695del
XR_001739039.2:n.2889del
XR_001739040.1:n.3054del
XR_001739041.2:n.2850del
XR_001739042.2:n.2826del
XR_001739043.1:n.2802del
XR_001739044.2:n.2817del
XR_001739045.2:n.2787del
XR_001739046.1:n.3134del
XR_001739047.2:n.2703del
XR_001739048.1:n.2892del
XR_001739049.2:n.2637del
XR_001739050.2:n.2598del
XR_001739051.2:n.2565del
XR_001739052.2:n.2538del
XR_001739053.1:n.2527del
XR_001739054.1:n.2449del
XR_001739055.2:n.2466del
XR_001739056.2:n.2451del
XR_001739057.1:n.2467del
XR_001739058.1:n.2646del
XR_001739059.2:n.2379del
XR_001739060.1:n.2353del
XR_001739061.1:n.2395del
XR_001739062.1:n.2572del
XR_001739063.1:n.2279del
XR_001739064.1:n.2540del
XR_001739065.1:n.2484del
XR_001739066.1:n.2281del
XR_001739067.1:n.2188del
XR_001739068.1:n.2209del
XR_001739069.1:n.2386del
XR_001739070.1:n.2250del
XR_001739071.1:n.2108del
XR_001739072.1:n.2354del
XR_001739073.2:n.1591+3695del
XR_002959364.1:n.2280del
NM_001137550.2:c.1459+3695del MANE Select NP_001131022.1:n.1459+3695del
NM_001137552.2:c.2187del NP_001131024.1:p.Glu730AsnfsTer?
NM_001137553.2:c.2019del NP_001131025.1:p.Glu674AsnfsTer?
NM_004735.4:c.2115del NP_004726.2:p.Glu706AsnfsTer?
NM_001137551.2:c.721+3695del NP_001131023.1:n.721+3695del