Canonical Allele Identifier: CA557055340

Gene: F11

Linked Data

• dbSNP Id: rs1205407485
• gnomAD v2: 4-187205800-T-TGC
• gnomAD v3: 4-186284646-T-TGC
• gnomAD v4: 4-186284646-T-TGC
• MyVariant Identifiers: chr4:g.187205800_187205801insGC (hg19) ; chr4:g.186284646_186284647insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284647_186284648insCG , CM000666.2:g.186284647_186284648insCG	GRCh38
NC_000004.11:g.187205801_187205802insCG , CM000666.1:g.187205801_187205802insCG	GRCh37
NC_000004.10:g.187442795_187442796insCG	NCBI36
NG_008051.1:g.23684_23685insCG , LRG_583:g.23684_23685insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1304+387_1304+388insCG MANE Select	ENSP00000384957.2:n.1304+387_1304+388insCG
ENST00000264692.8:c.1142+387_1142+388insCG	ENSP00000264692.5:n.1142+387_1142+388insCG
ENST00000403665.6:c.1304+387_1304+388insCG	ENSP00000384957.2:n.1304+387_1304+388insCG
NM_000128.3:c.1304+387_1304+388insCG , LRG_583t1:c.1304+387_1304+388insCG	NP_000119.1:n.1304+387_1304+388insCG
XM_005262821.2:c.1307+387_1307+388insCG	XP_005262878.1:n.1307+387_1307+388insCG
XM_005262822.2:c.1307+387_1307+388insCG	XP_005262879.1:n.1307+387_1307+388insCG
XM_005262823.2:c.1037+387_1037+388insCG	XP_005262880.1:n.1037+387_1037+388insCG
XM_005262824.1:c.1307+387_1307+388insCG	XP_005262881.1:n.1307+387_1307+388insCG
XM_006714137.1:c.1259+387_1259+388insCG	XP_006714200.1:n.1259+387_1259+388insCG
XR_938706.1:n.1712+387_1712+388insCG
XR_938707.1:n.1712+387_1712+388insCG
XM_005262821.4:c.1307+387_1307+388insCG	XP_005262878.1:n.1307+387_1307+388insCG
XM_005262822.4:c.1307+387_1307+388insCG	XP_005262879.1:n.1307+387_1307+388insCG
XM_005262823.4:c.1037+387_1037+388insCG	XP_005262880.1:n.1037+387_1037+388insCG
XM_006714137.3:c.1259+387_1259+388insCG	XP_006714200.1:n.1259+387_1259+388insCG
XR_001741172.2:n.1778+387_1778+388insCG
NM_000128.4:c.1304+387_1304+388insCG MANE Select	NP_000119.1:n.1304+387_1304+388insCG