Canonical Allele Identifier: CA10633172

Gene: FREM1

Linked Data

• ClinVar Variation Id: 366086
• ClinVar RCV Id: RCV000362446
• dbSNP Id: rs559342129
• gnomAD v2: 9-14736538-A-ATT
• gnomAD v3: 9-14736540-A-ATT
• gnomAD v4: 9-14736540-A-ATT
• MyVariant Identifiers: chr9:g.14736539_14736540dupTT (hg19) ; chr9:g.14736538_14736539insTT (hg19) ; chr9:g.14736541_14736542dupTT (hg38) ; chr9:g.14736540_14736541insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14736544_14736545dup , CM000671.2:g.14736544_14736545dup	GRCh38
NC_000009.11:g.14736542_14736543dup , CM000671.1:g.14736542_14736543dup	GRCh37
NC_000009.10:g.14726542_14726543dup	NCBI36
NG_017005.2:g.178695_178696dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422223.6:c.*854_*855dup	ENSP00000412940.2:n.*854_*855dup
NM_001177704.1:c.*854_*855dup	NP_001171175.1:n.*854_*855dup
NM_144966.5:c.*854_*855dup	NP_659403.4:n.*854_*855dup
XM_005251382.2:c.*854_*855dup	XP_005251439.1:n.*854_*855dup
XM_005251384.3:c.*854_*855dup	XP_005251441.1:n.*854_*855dup
XM_006716729.2:c.*854_*855dup	XP_006716792.1:n.*854_*855dup
XM_011517748.1:c.*854_*855dup	XP_011516050.1:n.*854_*855dup
XM_011517749.1:c.*854_*855dup	XP_011516051.1:n.*854_*855dup
XM_011517750.1:c.*854_*855dup	XP_011516052.1:n.*854_*855dup
XM_011517751.1:c.*854_*855dup	XP_011516053.1:n.*854_*855dup
XM_011517752.1:c.*854_*855dup	XP_011516054.1:n.*854_*855dup
XM_011517753.1:c.*1005_*1006dup	XP_011516055.1:n.*1005_*1006dup
XM_011517758.1:c.*854_*855dup	XP_011516060.1:n.*854_*855dup
XM_005251382.4:c.*854_*855dup	XP_005251439.1:n.*854_*855dup
XM_005251384.4:c.*854_*855dup	XP_005251441.1:n.*854_*855dup
XM_006716729.3:c.*854_*855dup	XP_006716792.1:n.*854_*855dup
XM_011517758.2:c.*854_*855dup	XP_011516060.1:n.*854_*855dup
XM_017014316.2:c.*854_*855dup	XP_016869805.1:n.*854_*855dup
XM_017014317.1:c.*854_*855dup	XP_016869806.1:n.*854_*855dup
XM_017014319.2:c.*854_*855dup	XP_016869808.1:n.*854_*855dup
XM_017014320.2:c.*854_*855dup	XP_016869809.1:n.*854_*855dup
XM_017014321.2:c.*854_*855dup	XP_016869810.1:n.*854_*855dup
XM_017014322.1:c.*854_*855dup	XP_016869811.1:n.*854_*855dup
XM_017014323.1:c.*854_*855dup	XP_016869812.1:n.*854_*855dup
XM_017014324.2:c.*854_*855dup	XP_016869813.1:n.*854_*855dup
XM_017014325.2:c.*1005_*1006dup	XP_016869814.1:n.*1005_*1006dup
XM_017014326.1:c.*854_*855dup	XP_016869815.1:n.*854_*855dup
XM_017014327.2:c.*854_*855dup	XP_016869816.1:n.*854_*855dup
XR_001746194.2:n.8260_8261dup
XR_001746195.2:n.8257_8258dup
NM_001370058.1:c.*1005_*1006dup	NP_001356987.1:n.*1005_*1006dup
NM_001370061.1:c.*854_*855dup	NP_001356990.1:n.*854_*855dup
NR_163238.1:n.6784_6785dup
NR_163239.1:n.8202_8203dup
NR_163242.1:n.3216_3217dup