Canonical Allele Identifier: CA4990239

Gene: FREM1

Linked Data

• dbSNP Id: rs758260040
• ExAC: 9:14784554 GCCAGGAGCGTGGTGGTTGTTAAGAAACCTCTATCACCTTTAGACA / G
• gnomAD v2: 9-14784554-GCCAGGAGCGTGGTGGTTGTTAAGAAACCTCTATCACCTTTAGACA-G
• MyVariant Identifiers: chr9:g.14784555_14784599del (hg19) ; chr9:g.14784557_14784601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14784560_14784604del , CM000671.2:g.14784560_14784604del	GRCh38
NC_000009.11:g.14784558_14784602del , CM000671.1:g.14784558_14784602del	GRCh37
NC_000009.10:g.14774558_14774602del	NCBI36
NG_017005.2:g.130636_130680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380880.4:c.4211_4255del MANE Select	ENSP00000370262.3:p.Val1404_Leu1418del
ENST00000380875.7:c.3981+8142_3981+8186del	ENSP00000370257.3:n.3981+8142_3981+8186del
ENST00000380880.3:c.4211_4255del	ENSP00000370262.3:p.Val1404_Leu1418del
ENST00000422223.6:c.4211_4255del	ENSP00000412940.2:p.Val1404_Leu1418del
ENST00000466679.1:n.241_285del
ENST00000485068.5:n.34_78del
ENST00000497634.2:n.372_416del
NM_144966.5:c.4211_4255del	NP_659403.4:p.Val1404_Leu1418del
XM_005251382.2:c.4211_4255del	XP_005251439.1:p.Val1404_Leu1418del
XM_006716726.2:c.4211_4255del	XP_006716789.1:p.Val1404_Leu1418del
XM_011517748.1:c.4211_4255del	XP_011516050.1:p.Val1404_Leu1418del
XM_011517749.1:c.4211_4255del	XP_011516051.1:p.Val1404_Leu1418del
XM_011517750.1:c.4211_4255del	XP_011516052.1:p.Val1404_Leu1418del
XM_011517751.1:c.4211_4255del	XP_011516053.1:p.Val1404_Leu1418del
XM_011517752.1:c.4211_4255del	XP_011516054.1:p.Val1404_Leu1418del
XM_011517753.1:c.4211_4255del	XP_011516055.1:p.Val1404_Leu1418del
XM_011517754.1:c.4211_4255del	XP_011516056.1:p.Val1404_Leu1418del
XM_011517755.1:c.4211_4255del	XP_011516057.1:p.Val1404_Leu1418del
XM_011517756.1:c.4211_4255del	XP_011516058.1:p.Val1404_Leu1418del
XR_929188.1:n.4997_5041del
XR_929190.1:n.5100_5144del
XR_929487.1:n.89+4543_89+4587del
XM_005251382.4:c.4211_4255del	XP_005251439.1:p.Val1404_Leu1418del
XM_005251384.4:c.-235_-191del	XP_005251441.1:n.-235_-191del
XM_006716729.3:c.-232_-188del	XP_006716792.1:n.-232_-188del
XM_017014316.2:c.4238_4282del	XP_016869805.1:p.Val1413_Leu1427del
XM_017014317.1:c.4238_4282del	XP_016869806.1:p.Val1413_Leu1427del
XM_017014319.2:c.4238_4282del	XP_016869808.1:p.Val1413_Leu1427del
XM_017014320.2:c.4238_4282del	XP_016869809.1:p.Val1413_Leu1427del
XM_017014321.2:c.4238_4282del	XP_016869810.1:p.Val1413_Leu1427del
XM_017014322.1:c.4238_4282del	XP_016869811.1:p.Val1413_Leu1427del
XM_017014323.1:c.4238_4282del	XP_016869812.1:p.Val1413_Leu1427del
XM_017014324.2:c.4238_4282del	XP_016869813.1:p.Val1413_Leu1427del
XM_017014325.2:c.4238_4282del	XP_016869814.1:p.Val1413_Leu1427del
XM_017014326.1:c.3830_3874del	XP_016869815.1:p.Val1277_Leu1291del
XM_017014327.2:c.3314_3358del	XP_016869816.1:p.Val1105_Leu1119del
XM_017014328.2:c.4238_4282del	XP_016869817.1:p.Val1413_Leu1427del
XM_017014329.2:c.4238_4282del	XP_016869818.1:p.Val1413_Leu1427del
XR_001746194.2:n.5024_5068del
XR_001746195.2:n.5024_5068del
XR_001746196.2:n.5127_5171del
XR_001746197.2:n.5020_5064del
NR_163238.1:n.4797+8142_4797+8186del
NR_163239.1:n.4966_5010del
NM_001379081.2:c.4211_4255del MANE Select	NP_001366010.1:p.Val1404_Leu1418del
NM_144966.7:c.4211_4255del	NP_659403.4:p.Val1404_Leu1418del
NR_163238.2:n.4797+8142_4797+8186del
NR_163239.2:n.4966_5010del