Canonical Allele Identifier: CA112102744

Gene: F11

Linked Data

• dbSNP Id: rs34783500
• gnomAD v2: 4-187205777-ATG-A
• gnomAD v3: 4-186284623-ATG-A
• gnomAD v4: 4-186284623-ATG-A
• COSMIC: COSN23124873
• MyVariant Identifiers: chr4:g.187205780_187205781del (hg19) ; chr4:g.187205778_187205779del (hg19) ; chr4:g.186284626_186284627del (hg38) ; chr4:g.186284624_186284625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284640_186284641del , CM000666.2:g.186284640_186284641del	GRCh38
NC_000004.11:g.187205794_187205795del , CM000666.1:g.187205794_187205795del	GRCh37
NC_000004.10:g.187442788_187442789del	NCBI36
NG_008051.1:g.23677_23678del , LRG_583:g.23677_23678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1304+380_1304+381del MANE Select	ENSP00000384957.2:n.1304+380_1304+381del
ENST00000264692.8:c.1142+380_1142+381del	ENSP00000264692.5:n.1142+380_1142+381del
ENST00000403665.6:c.1304+380_1304+381del	ENSP00000384957.2:n.1304+380_1304+381del
NM_000128.3:c.1304+380_1304+381del , LRG_583t1:c.1304+380_1304+381del	NP_000119.1:n.1304+380_1304+381del
XM_005262821.2:c.1307+380_1307+381del	XP_005262878.1:n.1307+380_1307+381del
XM_005262822.2:c.1307+380_1307+381del	XP_005262879.1:n.1307+380_1307+381del
XM_005262823.2:c.1037+380_1037+381del	XP_005262880.1:n.1037+380_1037+381del
XM_005262824.1:c.1307+380_1307+381del	XP_005262881.1:n.1307+380_1307+381del
XM_006714137.1:c.1259+380_1259+381del	XP_006714200.1:n.1259+380_1259+381del
XR_938706.1:n.1712+380_1712+381del
XR_938707.1:n.1712+380_1712+381del
XM_005262821.4:c.1307+380_1307+381del	XP_005262878.1:n.1307+380_1307+381del
XM_005262822.4:c.1307+380_1307+381del	XP_005262879.1:n.1307+380_1307+381del
XM_005262823.4:c.1037+380_1037+381del	XP_005262880.1:n.1037+380_1037+381del
XM_006714137.3:c.1259+380_1259+381del	XP_006714200.1:n.1259+380_1259+381del
XR_001741172.2:n.1778+380_1778+381del
NM_000128.4:c.1304+380_1304+381del MANE Select	NP_000119.1:n.1304+380_1304+381del