Canonical Allele Identifier: CA3164113

Linked Data

dbSNP Id: rs772562700

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288483dup , CM000666.2:g.186288483dup GRCh38
NC_000004.11:g.187209637dup , CM000666.1:g.187209637dup GRCh37
NC_000004.10:g.187446631dup NCBI36
NG_008051.1:g.27520dup , LRG_583:g.27520dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1747dup (F11) MANE Select ENSP00000384957.2:p.His583ProfsTer3
ENST00000264691.4:c.347dup (F11)
ENST00000264692.8:c.1585dup (F11) ENSP00000264692.5:p.His529ProfsTer3
ENST00000403665.6:c.1747dup (F11) ENSP00000384957.2:p.His583ProfsTer3
ENST00000503841.1:n.266dup (F11)
NM_000128.3:c.1747dup , LRG_583t1:c.1747dup (F11) NP_000119.1:p.His583ProfsTer3
NR_033900.1:n.1011dup (F11-AS1)
XM_005262821.2:c.1750dup (F11) XP_005262878.1:p.His584ProfsTer3
XM_005262822.2:c.1654dup (F11) XP_005262879.1:p.His552ProfsTer3
XM_005262823.2:c.1480dup (F11) XP_005262880.1:p.His494ProfsTer3
XM_006714137.1:c.1702dup (F11) XP_006714200.1:p.His568ProfsTer3
XM_005262821.4:c.1750dup (F11) XP_005262878.1:p.His584ProfsTer3
XM_005262822.4:c.1654dup (F11) XP_005262879.1:p.His552ProfsTer3
XM_005262823.4:c.1480dup (F11) XP_005262880.1:p.His494ProfsTer3
XM_006714137.3:c.1702dup (F11) XP_006714200.1:p.His568ProfsTer3
NM_000128.4:c.1747dup (F11) MANE Select NP_000119.1:p.His583ProfsTer3