Canonical Allele Identifier: CA2697552319

Gene: CSF3R

Linked Data

• ClinVar Variation Id: 2772779
• ClinVar RCV Id: RCV003592234

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36466681_36466712dup , CM000663.2:g.36466681_36466712dup	GRCh38
NC_000001.10:g.36932282_36932313dup , CM000663.1:g.36932282_36932313dup	GRCh37
NC_000001.9:g.36704869_36704900dup	NCBI36
NG_016270.1:g.21197_21228dup , LRG_144:g.21197_21228dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464465.7:c.2054_2085dup	ENSP00000435218.2:p.Gln696AlafsTer?
ENST00000487540.7:c.*450_*481dup	ENSP00000514169.2:n.*450_*481dup
ENST00000699089.1:n.3136_3167dup
ENST00000699090.1:c.1760_1791dup	ENSP00000514168.1:p.Gln598AlafsTer?
ENST00000373106.6:c.2156_2187dup MANE Select	ENSP00000362198.2:p.Gln730AlafsTer?
ENST00000331941.6:c.2156_2187dup	ENSP00000332180.5:p.Gln730AlafsTer?
ENST00000361632.8:c.2156_2187dup	ENSP00000355406.4:p.Gln730AlafsTer?
ENST00000373103.5:c.2237_2268dup	ENSP00000362195.1:p.Gln757AlafsTer?
ENST00000373104.5:c.2156_2187dup	ENSP00000362196.1:p.Gln730AlafsTer?
ENST00000373106.5:c.2156_2187dup	ENSP00000362198.1:p.Gln730AlafsTer?
ENST00000464465.6:c.811_842dup
ENST00000480825.6:n.5406_5437dup
ENST00000484762.1:n.547_578dup
ENST00000487540.6:n.1337_1368dup
NM_000760.3:c.2156_2187dup	NP_000751.1:p.Gln730AlafsTer?
NM_156039.3:c.2237_2268dup , LRG_144t1:c.2237_2268dup	NP_724781.1:p.Gln757AlafsTer?
NM_172313.2:c.2156_2187dup	NP_758519.1:p.Gln730AlafsTer?
XM_005270493.1:c.2153_2184dup	XP_005270550.1:p.Gln729AlafsTer?
XM_011540748.1:c.2237_2268dup	XP_011539050.1:p.Gln757AlafsTer?
XM_011540749.1:c.2234_2265dup	XP_011539051.1:p.Gln756AlafsTer?
XM_011540750.1:c.1565_1596dup	XP_011539052.1:p.Gln533AlafsTer?
XM_011540748.3:c.2237_2268dup	XP_011539050.1:p.Gln757AlafsTer?
XM_017000370.1:c.2237_2268dup	XP_016855859.1:p.Gln757AlafsTer?
NM_000760.4:c.2156_2187dup MANE Select	NP_000751.1:p.Gln730AlafsTer?
NM_172313.3:c.2156_2187dup	NP_758519.1:p.Gln730AlafsTer?