Canonical Allele Identifier: CA4990230

Gene: FREM1

Linked Data

• dbSNP Id: rs752380707
• ExAC: 9:14784526 TTCCTCAGG / T
• gnomAD v2: 9-14784526-TTCCTCAGG-T
• MyVariant Identifiers: chr9:g.14784527_14784534del (hg19) ; chr9:g.14784529_14784536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14784529_14784536del , CM000671.2:g.14784529_14784536del	GRCh38
NC_000009.11:g.14784527_14784534del , CM000671.1:g.14784527_14784534del	GRCh37
NC_000009.10:g.14774527_14774534del	NCBI36
NG_017005.2:g.130701_130708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380880.4:c.4276_4283del MANE Select	ENSP00000370262.3:p.Pro1426ThrfsTer?
ENST00000380875.7:c.3981+8207_3981+8214del	ENSP00000370257.3:n.3981+8207_3981+8214del
ENST00000380880.3:c.4276_4283del	ENSP00000370262.3:p.Pro1426ThrfsTer?
ENST00000422223.6:c.4276_4283del	ENSP00000412940.2:p.Pro1426ThrfsTer?
ENST00000466679.1:n.306_313del
ENST00000485068.5:n.99_106del
ENST00000497634.2:n.437_444del
NM_144966.5:c.4276_4283del	NP_659403.4:p.Pro1426ThrfsTer?
XM_005251382.2:c.4276_4283del	XP_005251439.1:p.Pro1426ThrfsTer?
XM_006716726.2:c.4276_4283del	XP_006716789.1:p.Pro1426ThrfsTer?
XM_011517748.1:c.4276_4283del	XP_011516050.1:p.Pro1426ThrfsTer?
XM_011517749.1:c.4276_4283del	XP_011516051.1:p.Pro1426ThrfsTer?
XM_011517750.1:c.4276_4283del	XP_011516052.1:p.Pro1426ThrfsTer?
XM_011517751.1:c.4276_4283del	XP_011516053.1:p.Pro1426ThrfsTer?
XM_011517752.1:c.4276_4283del	XP_011516054.1:p.Pro1426ThrfsTer?
XM_011517753.1:c.4276_4283del	XP_011516055.1:p.Pro1426ThrfsTer?
XM_011517754.1:c.4276_4283del	XP_011516056.1:p.Pro1426ThrfsTer?
XM_011517755.1:c.4276_4283del	XP_011516057.1:p.Pro1426ThrfsTer?
XM_011517756.1:c.4276_4283del	XP_011516058.1:p.Pro1426ThrfsTer?
XR_929188.1:n.5062_5069del
XR_929487.1:n.89+4512_89+4519del
XM_005251382.4:c.4276_4283del	XP_005251439.1:p.Pro1426ThrfsTer?
XM_005251384.4:c.-170_-163del	XP_005251441.1:n.-170_-163del
XM_006716729.3:c.-167_-160del	XP_006716792.1:n.-167_-160del
XM_017014316.2:c.4303_4310del	XP_016869805.1:p.Pro1435ThrfsTer?
XM_017014317.1:c.4303_4310del	XP_016869806.1:p.Pro1435ThrfsTer?
XM_017014319.2:c.4303_4310del	XP_016869808.1:p.Pro1435ThrfsTer?
XM_017014320.2:c.4303_4310del	XP_016869809.1:p.Pro1435ThrfsTer?
XM_017014321.2:c.4303_4310del	XP_016869810.1:p.Pro1435ThrfsTer?
XM_017014322.1:c.4303_4310del	XP_016869811.1:p.Pro1435ThrfsTer?
XM_017014323.1:c.4303_4310del	XP_016869812.1:p.Pro1435ThrfsTer?
XM_017014324.2:c.4303_4310del	XP_016869813.1:p.Pro1435ThrfsTer?
XM_017014325.2:c.4303_4310del	XP_016869814.1:p.Pro1435ThrfsTer?
XM_017014326.1:c.3895_3902del	XP_016869815.1:p.Pro1299ThrfsTer?
XM_017014327.2:c.3379_3386del	XP_016869816.1:p.Pro1127ThrfsTer?
XM_017014328.2:c.4303_4310del	XP_016869817.1:p.Pro1435ThrfsTer?
XM_017014329.2:c.4303_4310del	XP_016869818.1:p.Pro1435ThrfsTer?
XR_001746194.2:n.5089_5096del
XR_001746195.2:n.5089_5096del
XR_001746197.2:n.5085_5092del
NR_163238.1:n.4797+8207_4797+8214del
NR_163239.1:n.5031_5038del
NM_001379081.2:c.4276_4283del MANE Select	NP_001366010.1:p.Pro1426ThrfsTer?
NM_144966.7:c.4276_4283del	NP_659403.4:p.Pro1426ThrfsTer?
NR_163238.2:n.4797+8207_4797+8214del
NR_163239.2:n.5031_5038del