Canonical Allele Identifier: CA3163949

Gene: F11

Linked Data

• ClinVar Variation Id: 556572
• ClinVar RCV Id: RCV000672594
• dbSNP Id: rs778294619
• ExAC: 4:187205436 ATTAG / A
• gnomAD v2: 4-187205436-ATTAG-A
• gnomAD v3: 4-186284282-ATTAG-A
• gnomAD v4: 4-186284282-ATTAG-A
• MyVariant Identifiers: chr4:g.187205437_187205440del (hg19) ; chr4:g.186284285_186284288del (hg38) ; chr4:g.186284284_186284287del (hg38) ; chr4:g.186284283_186284286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284285_186284288del , CM000666.2:g.186284285_186284288del	GRCh38
NC_000004.11:g.187205439_187205442del , CM000666.1:g.187205439_187205442del	GRCh37
NC_000004.10:g.187442433_187442436del	NCBI36
NG_008051.1:g.23322_23325del , LRG_583:g.23322_23325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1304+25_1304+28del MANE Select	ENSP00000384957.2:n.1304+25_1304+28del
ENST00000264692.8:c.1142+25_1142+28del	ENSP00000264692.5:n.1142+25_1142+28del
ENST00000403665.6:c.1304+25_1304+28del	ENSP00000384957.2:n.1304+25_1304+28del
NM_000128.3:c.1304+25_1304+28del , LRG_583t1:c.1304+25_1304+28del	NP_000119.1:n.1304+25_1304+28del
XM_005262821.2:c.1307+25_1307+28del	XP_005262878.1:n.1307+25_1307+28del
XM_005262822.2:c.1307+25_1307+28del	XP_005262879.1:n.1307+25_1307+28del
XM_005262823.2:c.1037+25_1037+28del	XP_005262880.1:n.1037+25_1037+28del
XM_005262824.1:c.1307+25_1307+28del	XP_005262881.1:n.1307+25_1307+28del
XM_006714137.1:c.1259+25_1259+28del	XP_006714200.1:n.1259+25_1259+28del
XR_938706.1:n.1712+25_1712+28del
XR_938707.1:n.1712+25_1712+28del
XM_005262821.4:c.1307+25_1307+28del	XP_005262878.1:n.1307+25_1307+28del
XM_005262822.4:c.1307+25_1307+28del	XP_005262879.1:n.1307+25_1307+28del
XM_005262823.4:c.1037+25_1037+28del	XP_005262880.1:n.1037+25_1037+28del
XM_006714137.3:c.1259+25_1259+28del	XP_006714200.1:n.1259+25_1259+28del
XR_001741172.2:n.1778+25_1778+28del
NM_000128.4:c.1304+25_1304+28del MANE Select	NP_000119.1:n.1304+25_1304+28del