Canonical Allele Identifier: CA658821882

Gene: F11

Linked Data

• ClinVar Variation Id: 552815
• ClinVar RCV Id: RCV000668149
• dbSNP Id: rs1554083734
• gnomAD v4: 4-186285692-AATAAAAGAGGACAC-A
• MyVariant Identifiers: chr4:g.186285695_186285708del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285695_186285708del , CM000666.2:g.186285695_186285708del	GRCh38
NC_000004.11:g.187206849_187206862del , CM000666.1:g.187206849_187206862del	GRCh37
NC_000004.10:g.187443843_187443856del	NCBI36
NG_008051.1:g.24732_24745del , LRG_583:g.24732_24745del

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1362_1375del MANE Select	ENSP00000384957.2:p.Lys455PhefsTer11
ENST00000264691.4:c.58_71del
ENST00000264692.8:c.1200_1213del	ENSP00000264692.5:p.Lys401PhefsTer11
ENST00000403665.6:c.1362_1375del	ENSP00000384957.2:p.Lys455PhefsTer11
NM_000128.3:c.1362_1375del , LRG_583t1:c.1362_1375del	NP_000119.1:p.Lys455PhefsTer11
XM_005262821.2:c.1365_1378del	XP_005262878.1:p.Lys456PhefsTer11
XM_005262822.2:c.1365_1378del	XP_005262879.1:p.Lys456PhefsTer11
XM_005262823.2:c.1095_1108del	XP_005262880.1:p.Lys366PhefsTer11
XM_005262824.1:c.1365_1378del	XP_005262881.1:p.Lys456PhefsTer11
XM_006714137.1:c.1317_1330del	XP_006714200.1:p.Lys440PhefsTer11
XR_938706.1:n.1770_1783del
XR_938707.1:n.1770_1783del
XM_005262821.4:c.1365_1378del	XP_005262878.1:p.Lys456PhefsTer11
XM_005262822.4:c.1365_1378del	XP_005262879.1:p.Lys456PhefsTer11
XM_005262823.4:c.1095_1108del	XP_005262880.1:p.Lys366PhefsTer11
XM_006714137.3:c.1317_1330del	XP_006714200.1:p.Lys440PhefsTer11
XR_001741172.2:n.1836_1849del
NM_000128.4:c.1362_1375del MANE Select	NP_000119.1:p.Lys455PhefsTer11