Canonical Allele Identifier: CA3163750

Gene: F11

Linked Data

• dbSNP Id: rs776327229
• ExAC: 4:187197490 CCGGTTG / C
• gnomAD v2: 4-187197490-CCGGTTG-C
• gnomAD v4: 4-186276336-CCGGTTG-C
• MyVariant Identifiers: chr4:g.187197491_187197496del (hg19) ; chr4:g.186276337_186276342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276338_186276343del , CM000666.2:g.186276338_186276343del	GRCh38
NC_000004.11:g.187197492_187197497del , CM000666.1:g.187197492_187197497del	GRCh37
NC_000004.10:g.187434486_187434491del	NCBI36
NG_008051.1:g.15375_15380del , LRG_583:g.15375_15380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.703_708del MANE Select	ENSP00000384957.2:p.Gly235_Cys236del
ENST00000264692.8:c.541_546del	ENSP00000264692.5:p.Gly181_Cys182del
ENST00000403665.6:c.703_708del	ENSP00000384957.2:p.Gly235_Cys236del
ENST00000452239.1:c.150_155del
NM_000128.3:c.703_708del , LRG_583t1:c.703_708del	NP_000119.1:p.Gly235_Cys236del
XM_005262821.2:c.703_708del	XP_005262878.1:p.Gly235_Cys236del
XM_005262822.2:c.703_708del	XP_005262879.1:p.Gly235_Cys236del
XM_005262823.2:c.485+2063_485+2068del	XP_005262880.1:n.485+2063_485+2068del
XM_005262824.1:c.703_708del	XP_005262881.1:p.Gly235_Cys236del
XM_006714137.1:c.703_708del	XP_006714200.1:p.Gly235_Cys236del
XR_938706.1:n.1055_1060del
XR_938707.1:n.1055_1060del
XM_005262821.4:c.703_708del	XP_005262878.1:p.Gly235_Cys236del
XM_005262822.4:c.703_708del	XP_005262879.1:p.Gly235_Cys236del
XM_005262823.4:c.485+2063_485+2068del	XP_005262880.1:n.485+2063_485+2068del
XM_006714137.3:c.703_708del	XP_006714200.1:p.Gly235_Cys236del
XM_017007884.2:c.703_708del	XP_016863373.1:p.Gly235_Cys236del
XM_017007885.2:c.703_708del	XP_016863374.1:p.Gly235_Cys236del
XM_017007886.2:c.703_708del	XP_016863375.1:p.Gly235_Cys236del
XR_001741172.2:n.1036_1041del
NM_000128.4:c.703_708del MANE Select	NP_000119.1:p.Gly235_Cys236del