Canonical Allele Identifier: CA2672904153

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288523_186288525dup , CM000666.2:g.186288523_186288525dup GRCh38
NC_000004.11:g.187209677_187209679dup , CM000666.1:g.187209677_187209679dup GRCh37
NC_000004.10:g.187446671_187446673dup NCBI36
NG_008051.1:g.27560_27562dup , LRG_583:g.27560_27562dup

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1787_1789dup (F11) MANE Select ENSP00000384957.2:p.Gly596_Glu597insGly
ENST00000264691.4:c.387_389dup (F11)
ENST00000264692.8:c.1625_1627dup (F11) ENSP00000264692.5:p.Gly542_Glu543insGly
ENST00000403665.6:c.1787_1789dup (F11) ENSP00000384957.2:p.Gly596_Glu597insGly
ENST00000503841.1:n.306_308dup (F11)
NM_000128.3:c.1787_1789dup , LRG_583t1:c.1787_1789dup (F11) NP_000119.1:p.Gly596_Glu597insGly
NR_033900.1:n.970_972dup (F11-AS1)
XM_005262821.2:c.1790_1792dup (F11) XP_005262878.1:p.Gly597_Glu598insGly
XM_005262822.2:c.1694_1696dup (F11) XP_005262879.1:p.Gly565_Glu566insGly
XM_005262823.2:c.1520_1522dup (F11) XP_005262880.1:p.Gly507_Glu508insGly
XM_006714137.1:c.1742_1744dup (F11) XP_006714200.1:p.Gly581_Glu582insGly
XM_005262821.4:c.1790_1792dup (F11) XP_005262878.1:p.Gly597_Glu598insGly
XM_005262822.4:c.1694_1696dup (F11) XP_005262879.1:p.Gly565_Glu566insGly
XM_005262823.4:c.1520_1522dup (F11) XP_005262880.1:p.Gly507_Glu508insGly
XM_006714137.3:c.1742_1744dup (F11) XP_006714200.1:p.Gly581_Glu582insGly
NM_000128.4:c.1787_1789dup (F11) MANE Select NP_000119.1:p.Gly596_Glu597insGly