Canonical Allele Identifier: CA16040950

Linked Data

ClinVar Variation Id: 370801
ClinVar RCV Id: RCV000409880
dbSNP Id: rs1057516777

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286494dup , CM000666.2:g.186286494dup GRCh38
NC_000004.11:g.187207648dup , CM000666.1:g.187207648dup GRCh37
NC_000004.10:g.187444642dup NCBI36
NG_008051.1:g.25531dup , LRG_583:g.25531dup

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1560dup (F11) MANE Select ENSP00000384957.2:p.Tyr521ValfsTer?
ENST00000264691.4:c.176+681dup (F11)
ENST00000264692.8:c.1398dup (F11) ENSP00000264692.5:p.Tyr467ValfsTer?
ENST00000403665.6:c.1560dup (F11) ENSP00000384957.2:p.Tyr521ValfsTer?
NM_000128.3:c.1560dup , LRG_583t1:c.1560dup (F11) NP_000119.1:p.Tyr521ValfsTer?
NR_033900.1:n.1067-224dup (F11-AS1)
XM_005262821.2:c.1563dup (F11) XP_005262878.1:p.Tyr522ValfsTer?
XM_005262822.2:c.1483+681dup (F11) XP_005262879.1:n.1483+681dup
XM_005262823.2:c.1293dup (F11) XP_005262880.1:p.Tyr432ValfsTer?
XM_005262824.1:c.1484-52dup (F11) XP_005262881.1:n.1484-52dup
XM_006714137.1:c.1515dup (F11) XP_006714200.1:p.Tyr506ValfsTer?
XR_938706.1:n.1968dup (F11)
XR_938707.1:n.1888+681dup (F11)
XM_005262821.4:c.1563dup (F11) XP_005262878.1:p.Tyr522ValfsTer?
XM_005262822.4:c.1483+681dup (F11) XP_005262879.1:n.1483+681dup
XM_005262823.4:c.1293dup (F11) XP_005262880.1:p.Tyr432ValfsTer?
XM_006714137.3:c.1515dup (F11) XP_006714200.1:p.Tyr506ValfsTer?
XR_001741172.2:n.2034dup (F11)
NM_000128.4:c.1560dup (F11) MANE Select NP_000119.1:p.Tyr521ValfsTer?