Canonical Allele Identifier: CA112102742

Gene: F11

Linked Data

• dbSNP Id: rs34783500
• gnomAD v2: 4-187205777-A-ATGTG
• gnomAD v3: 4-186284623-A-ATGTG
• gnomAD v4: 4-186284623-A-ATGTG
• MyVariant Identifiers: chr4:g.187205781_187205782insTGTG (hg19) ; chr4:g.187205777_187205778insTGTG (hg19) ; chr4:g.186284627_186284628insTGTG (hg38) ; chr4:g.186284623_186284624insTGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284638_186284641dup , CM000666.2:g.186284638_186284641dup	GRCh38
NC_000004.11:g.187205792_187205795dup , CM000666.1:g.187205792_187205795dup	GRCh37
NC_000004.10:g.187442786_187442789dup	NCBI36
NG_008051.1:g.23675_23678dup , LRG_583:g.23675_23678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1304+378_1304+381dup MANE Select	ENSP00000384957.2:n.1304+378_1304+381dup
ENST00000264692.8:c.1142+378_1142+381dup	ENSP00000264692.5:n.1142+378_1142+381dup
ENST00000403665.6:c.1304+378_1304+381dup	ENSP00000384957.2:n.1304+378_1304+381dup
NM_000128.3:c.1304+378_1304+381dup , LRG_583t1:c.1304+378_1304+381dup	NP_000119.1:n.1304+378_1304+381dup
XM_005262821.2:c.1307+378_1307+381dup	XP_005262878.1:n.1307+378_1307+381dup
XM_005262822.2:c.1307+378_1307+381dup	XP_005262879.1:n.1307+378_1307+381dup
XM_005262823.2:c.1037+378_1037+381dup	XP_005262880.1:n.1037+378_1037+381dup
XM_005262824.1:c.1307+378_1307+381dup	XP_005262881.1:n.1307+378_1307+381dup
XM_006714137.1:c.1259+378_1259+381dup	XP_006714200.1:n.1259+378_1259+381dup
XR_938706.1:n.1712+378_1712+381dup
XR_938707.1:n.1712+378_1712+381dup
XM_005262821.4:c.1307+378_1307+381dup	XP_005262878.1:n.1307+378_1307+381dup
XM_005262822.4:c.1307+378_1307+381dup	XP_005262879.1:n.1307+378_1307+381dup
XM_005262823.4:c.1037+378_1037+381dup	XP_005262880.1:n.1037+378_1037+381dup
XM_006714137.3:c.1259+378_1259+381dup	XP_006714200.1:n.1259+378_1259+381dup
XR_001741172.2:n.1778+378_1778+381dup
NM_000128.4:c.1304+378_1304+381dup MANE Select	NP_000119.1:n.1304+378_1304+381dup