Canonical Allele Identifier: CA2580071712

Gene: F11

Linked Data

• ClinVar Variation Id: 1726788
• ClinVar RCV Id: RCV002310472

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280236_186280237delinsAATA , CM000666.2:g.186280236_186280237delinsAATA	GRCh38
NC_000004.11:g.187201390_187201391delinsAATA , CM000666.1:g.187201390_187201391delinsAATA	GRCh37
NC_000004.10:g.187438384_187438385delinsAATA	NCBI36
NG_008051.1:g.19273_19274delinsAATA , LRG_583:g.19273_19274delinsAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.879_880delinsAATA MANE Select	ENSP00000384957.2:p.Ser294IlefsTer?
ENST00000264692.8:c.717_718delinsAATA	ENSP00000264692.5:p.Ser240IlefsTer?
ENST00000403665.6:c.879_880delinsAATA	ENSP00000384957.2:p.Ser294IlefsTer?
ENST00000452239.1:c.326_327delinsAATA
NM_000128.3:c.879_880delinsAATA , LRG_583t1:c.879_880delinsAATA	NP_000119.1:p.Ser294IlefsTer?
XM_005262821.2:c.879_880delinsAATA	XP_005262878.1:p.Ser294IlefsTer?
XM_005262822.2:c.879_880delinsAATA	XP_005262879.1:p.Ser294IlefsTer?
XM_005262823.2:c.609_610delinsAATA	XP_005262880.1:p.Ser204IlefsTer?
XM_005262824.1:c.879_880delinsAATA	XP_005262881.1:p.Ser294IlefsTer?
XM_006714137.1:c.866-35_866-34delinsAATA	XP_006714200.1:n.866-35_866-34delinsAATA
XR_938706.1:n.1231_1232delinsAATA
XR_938707.1:n.1231_1232delinsAATA
XM_005262821.4:c.879_880delinsAATA	XP_005262878.1:p.Ser294IlefsTer?
XM_005262822.4:c.879_880delinsAATA	XP_005262879.1:p.Ser294IlefsTer?
XM_005262823.4:c.609_610delinsAATA	XP_005262880.1:p.Ser204IlefsTer?
XM_006714137.3:c.866-35_866-34delinsAATA	XP_006714200.1:n.866-35_866-34delinsAATA
XM_017007884.2:c.879_880delinsAATA	XP_016863373.1:p.Ser294IlefsTer?
XM_017007885.2:c.879_880delinsAATA	XP_016863374.1:p.Ser294IlefsTer?
XM_017007886.2:c.879_880delinsAATA	XP_016863375.1:p.Ser294IlefsTer?
XR_001741172.2:n.1212_1213delinsAATA
NM_000128.4:c.879_880delinsAATA MANE Select	NP_000119.1:p.Ser294IlefsTer?