Canonical Allele Identifier: CA527131309

Gene: F5

Linked Data

• dbSNP Id: rs1557921853
• gnomAD v2: 1-169522078-A-ACTAGTTCTCTAAAAATTTCTTAGTGTAGTTTGCAAAGTCCTTATGTTTTCTGT
• gnomAD v3: 1-169552840-A-ACTAGTTCTCTAAAAATTTCTTAGTGTAGTTTGCAAAGTCCTTATGTTTTCTGT
• gnomAD v4: 1-169552840-A-ACTAGTTCTCTAAAAATTTCTTAGTGTAGTTTGCAAAGTCCTTATGTTTTCTGT
• MyVariant Identifiers: chr1:g.169522078_169522079insCTAGTTCTCTAAAAATTTCTTAGTGTAGTTTGCAAAGTCCTTATGTTTTCTGT (hg19) ; chr1:g.169552840_169552841insCTAGTTCTCTAAAAATTTCTTAGTGTAGTTTGCAAAGTCCTTATGTTTTCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552847_169552899dup , CM000663.2:g.169552847_169552899dup	GRCh38
NC_000001.10:g.169522085_169522137dup , CM000663.1:g.169522085_169522137dup	GRCh37
NC_000001.9:g.167788709_167788761dup	NCBI36
NG_011806.1:g.38639_38691dup , LRG_553:g.38639_38691dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1119-159_1119-107dup MANE Select	ENSP00000356771.3:n.1119-159_1119-107dup
ENST00000367796.3:c.1119-159_1119-107dup	ENSP00000356770.3:n.1119-159_1119-107dup
ENST00000367797.7:c.1119-159_1119-107dup	ENSP00000356771.3:n.1119-159_1119-107dup
NM_000130.4:c.1119-159_1119-107dup , LRG_553t1:c.1119-159_1119-107dup	NP_000121.2:n.1119-159_1119-107dup
XM_017000660.2:c.708-159_708-107dup	XP_016856149.1:n.708-159_708-107dup
NM_000130.5:c.1119-159_1119-107dup MANE Select	NP_000121.2:n.1119-159_1119-107dup