Canonical Allele Identifier: CA2573335091

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286493_186286494dup , CM000666.2:g.186286493_186286494dup GRCh38
NC_000004.11:g.187207647_187207648dup , CM000666.1:g.187207647_187207648dup GRCh37
NC_000004.10:g.187444641_187444642dup NCBI36
NG_008051.1:g.25530_25531dup , LRG_583:g.25530_25531dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1559_1560dup (F11) MANE Select ENSP00000384957.2:p.Tyr521GlyfsTer5
ENST00000264691.4:c.176+680_176+681dup (F11)
ENST00000264692.8:c.1397_1398dup (F11) ENSP00000264692.5:p.Tyr467GlyfsTer5
ENST00000403665.6:c.1559_1560dup (F11) ENSP00000384957.2:p.Tyr521GlyfsTer5
NM_000128.3:c.1559_1560dup , LRG_583t1:c.1559_1560dup (F11) NP_000119.1:p.Tyr521GlyfsTer5
NR_033900.1:n.1067-225_1067-224dup (F11-AS1)
XM_005262821.2:c.1562_1563dup (F11) XP_005262878.1:p.Tyr522GlyfsTer5
XM_005262822.2:c.1483+680_1483+681dup (F11) XP_005262879.1:n.1483+680_1483+681dup
XM_005262823.2:c.1292_1293dup (F11) XP_005262880.1:p.Tyr432GlyfsTer5
XM_005262824.1:c.1484-53_1484-52dup (F11) XP_005262881.1:n.1484-53_1484-52dup
XM_006714137.1:c.1514_1515dup (F11) XP_006714200.1:p.Tyr506GlyfsTer5
XR_938706.1:n.1967_1968dup (F11)
XR_938707.1:n.1888+680_1888+681dup (F11)
XM_005262821.4:c.1562_1563dup (F11) XP_005262878.1:p.Tyr522GlyfsTer5
XM_005262822.4:c.1483+680_1483+681dup (F11) XP_005262879.1:n.1483+680_1483+681dup
XM_005262823.4:c.1292_1293dup (F11) XP_005262880.1:p.Tyr432GlyfsTer5
XM_006714137.3:c.1514_1515dup (F11) XP_006714200.1:p.Tyr506GlyfsTer5
XR_001741172.2:n.2033_2034dup (F11)
NM_000128.4:c.1559_1560dup (F11) MANE Select NP_000119.1:p.Tyr521GlyfsTer5