Canonical Allele Identifier: CA2695204110

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286509_186286510del , CM000666.2:g.186286509_186286510del GRCh38
NC_000004.11:g.187207663_187207664del , CM000666.1:g.187207663_187207664del GRCh37
NC_000004.10:g.187444657_187444658del NCBI36
NG_008051.1:g.25546_25547del , LRG_583:g.25546_25547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1575_1576del (F11) MANE Select ENSP00000384957.2:p.Asp526GlnfsTer27
ENST00000264691.4:c.176+696_176+697del (F11)
ENST00000264692.8:c.1413_1414del (F11) ENSP00000264692.5:p.Asp472GlnfsTer27
ENST00000403665.6:c.1575_1576del (F11) ENSP00000384957.2:p.Asp526GlnfsTer27
NM_000128.3:c.1575_1576del , LRG_583t1:c.1575_1576del (F11) NP_000119.1:p.Asp526GlnfsTer27
NR_033900.1:n.1067-242_1067-241del (F11-AS1)
XM_005262821.2:c.1578_1579del (F11) XP_005262878.1:p.Asp527GlnfsTer27
XM_005262822.2:c.1483+696_1483+697del (F11) XP_005262879.1:n.1483+696_1483+697del
XM_005262823.2:c.1308_1309del (F11) XP_005262880.1:p.Asp437GlnfsTer27
XM_005262824.1:c.1484-37_1484-36del (F11) XP_005262881.1:n.1484-37_1484-36del
XM_006714137.1:c.1530_1531del (F11) XP_006714200.1:p.Asp511GlnfsTer27
XR_938706.1:n.1983_1984del (F11)
XR_938707.1:n.1888+696_1888+697del (F11)
XM_005262821.4:c.1578_1579del (F11) XP_005262878.1:p.Asp527GlnfsTer27
XM_005262822.4:c.1483+696_1483+697del (F11) XP_005262879.1:n.1483+696_1483+697del
XM_005262823.4:c.1308_1309del (F11) XP_005262880.1:p.Asp437GlnfsTer27
XM_006714137.3:c.1530_1531del (F11) XP_006714200.1:p.Asp511GlnfsTer27
NM_000128.4:c.1575_1576del (F11) MANE Select NP_000119.1:p.Asp526GlnfsTer27