Canonical Allele Identifier: CA1835190607

Gene: FREM1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14784320_14784324delinsTGTAA , CM000671.2:g.14784320_14784324delinsTGTAA	GRCh38
NC_000009.11:g.14784318_14784322delinsTGTAA , CM000671.1:g.14784318_14784322delinsTGTAA	GRCh37
NC_000009.10:g.14774318_14774322delinsTGTAA	NCBI36
NG_017005.2:g.130913_130917delinsTTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380880.4:c.4442+46_4442+50delinsTTACA MANE Select	ENSP00000370262.3:n.4442+46_4442+50delinsTTACA
ENST00000380875.7:c.3981+8419_3981+8423delinsTTACA	ENSP00000370257.3:n.3981+8419_3981+8423delinsTTACA
ENST00000380880.3:c.4442+46_4442+50delinsTTACA	ENSP00000370262.3:n.4442+46_4442+50delinsTTACA
ENST00000422223.6:c.4442+46_4442+50delinsTTACA	ENSP00000412940.2:n.4442+46_4442+50delinsTTACA
ENST00000466679.1:n.472+46_472+50delinsTTACA
ENST00000485068.5:n.265+46_265+50delinsTTACA
ENST00000497634.2:n.649_653delinsTTACA
NM_144966.5:c.4442+46_4442+50delinsTTACA	NP_659403.4:n.4442+46_4442+50delinsTTACA
XM_005251382.2:c.4442+46_4442+50delinsTTACA	XP_005251439.1:n.4442+46_4442+50delinsTTACA
XM_005251384.3:c.-4+46_-4+50delinsTTACA	XP_005251441.1:n.-4+46_-4+50delinsTTACA
XM_006716726.2:c.4442+46_4442+50delinsTTACA	XP_006716789.1:n.4442+46_4442+50delinsTTACA
XM_006716729.2:c.-1+46_-1+50delinsTTACA	XP_006716792.1:n.-1+46_-1+50delinsTTACA
XM_011517748.1:c.4442+46_4442+50delinsTTACA	XP_011516050.1:n.4442+46_4442+50delinsTTACA
XM_011517749.1:c.4442+46_4442+50delinsTTACA	XP_011516051.1:n.4442+46_4442+50delinsTTACA
XM_011517750.1:c.4442+46_4442+50delinsTTACA	XP_011516052.1:n.4442+46_4442+50delinsTTACA
XM_011517751.1:c.4442+46_4442+50delinsTTACA	XP_011516053.1:n.4442+46_4442+50delinsTTACA
XM_011517752.1:c.4442+46_4442+50delinsTTACA	XP_011516054.1:n.4442+46_4442+50delinsTTACA
XM_011517753.1:c.4442+46_4442+50delinsTTACA	XP_011516055.1:n.4442+46_4442+50delinsTTACA
XM_011517754.1:c.4442+46_4442+50delinsTTACA	XP_011516056.1:n.4442+46_4442+50delinsTTACA
XM_011517755.1:c.4442+46_4442+50delinsTTACA	XP_011516057.1:n.4442+46_4442+50delinsTTACA
XM_011517756.1:c.4442+46_4442+50delinsTTACA	XP_011516058.1:n.4442+46_4442+50delinsTTACA
XR_929188.1:n.5228+46_5228+50delinsTTACA
XR_929487.1:n.89+4303_89+4307delinsTGTAA
XM_005251382.4:c.4442+46_4442+50delinsTTACA	XP_005251439.1:n.4442+46_4442+50delinsTTACA
XM_005251384.4:c.-4+46_-4+50delinsTTACA	XP_005251441.1:n.-4+46_-4+50delinsTTACA
XM_006716729.3:c.-1+46_-1+50delinsTTACA	XP_006716792.1:n.-1+46_-1+50delinsTTACA
XM_017014316.2:c.4469+46_4469+50delinsTTACA	XP_016869805.1:n.4469+46_4469+50delinsTTACA
XM_017014317.1:c.4469+46_4469+50delinsTTACA	XP_016869806.1:n.4469+46_4469+50delinsTTACA
XM_017014319.2:c.4469+46_4469+50delinsTTACA	XP_016869808.1:n.4469+46_4469+50delinsTTACA
XM_017014320.2:c.4469+46_4469+50delinsTTACA	XP_016869809.1:n.4469+46_4469+50delinsTTACA
XM_017014321.2:c.4469+46_4469+50delinsTTACA	XP_016869810.1:n.4469+46_4469+50delinsTTACA
XM_017014322.1:c.4469+46_4469+50delinsTTACA	XP_016869811.1:n.4469+46_4469+50delinsTTACA
XM_017014323.1:c.4469+46_4469+50delinsTTACA	XP_016869812.1:n.4469+46_4469+50delinsTTACA
XM_017014324.2:c.4469+46_4469+50delinsTTACA	XP_016869813.1:n.4469+46_4469+50delinsTTACA
XM_017014325.2:c.4469+46_4469+50delinsTTACA	XP_016869814.1:n.4469+46_4469+50delinsTTACA
XM_017014326.1:c.4061+46_4061+50delinsTTACA	XP_016869815.1:n.4061+46_4061+50delinsTTACA
XM_017014327.2:c.3545+46_3545+50delinsTTACA	XP_016869816.1:n.3545+46_3545+50delinsTTACA
XM_017014328.2:c.4469+46_4469+50delinsTTACA	XP_016869817.1:n.4469+46_4469+50delinsTTACA
XM_017014329.2:c.4469+46_4469+50delinsTTACA	XP_016869818.1:n.4469+46_4469+50delinsTTACA
XR_001746194.2:n.5255+46_5255+50delinsTTACA
XR_001746195.2:n.5255+46_5255+50delinsTTACA
XR_001746197.2:n.5251+46_5251+50delinsTTACA
NR_163238.1:n.4797+8419_4797+8423delinsTTACA
NR_163239.1:n.5197+46_5197+50delinsTTACA
NM_001379081.2:c.4442+46_4442+50delinsTTACA MANE Select	NP_001366010.1:n.4442+46_4442+50delinsTTACA
NM_144966.7:c.4442+46_4442+50delinsTTACA	NP_659403.4:n.4442+46_4442+50delinsTTACA
NR_163238.2:n.4797+8419_4797+8423delinsTTACA
NR_163239.2:n.5197+46_5197+50delinsTTACA