Canonical Allele Identifier: CA2695225372
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229150_31229151dup , CM000679.2:g.31229150_31229151dup GRCh38
NC_000017.10:g.29556168_29556169dup , CM000679.1:g.29556168_29556169dup GRCh37
NC_000017.9:g.26580294_26580295dup NCBI36
NG_009018.1:g.139174_139175dup , LRG_214:g.139174_139175dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.2580_2581dup ENSP00000512431.1:p.Ala861ValfsTer?
ENST00000691014.1:c.2565_2566dup ENSP00000510595.1:p.Ala856ValfsTer?
ENST00000358273.9:c.2535_2536dup MANE Select ENSP00000351015.4:p.Ala846ValfsTer?
ENST00000356175.7:c.2535_2536dup ENSP00000348498.3:p.Ala846ValfsTer?
ENST00000358273.8:c.2535_2536dup ENSP00000351015.4:p.Ala846ValfsTer?
ENST00000456735.6:c.1533_1534dup ENSP00000389907.2:p.Ala512ValfsTer?
ENST00000493220.5:n.702_703dup
ENST00000495910.6:c.2310_2311dup
ENST00000579081.5:c.2637_2638dup ENSP00000462408.1:p.Ala880ValfsTer?
NM_000267.3:c.2535_2536dup , LRG_214t1:c.2535_2536dup NP_000258.1:p.Ala846ValfsTer?
NM_001042492.2:c.2535_2536dup , LRG_214t2:c.2535_2536dup NP_001035957.1:p.Ala846ValfsTer?
XM_005257983.1:c.2535_2536dup XP_005258040.1:p.Ala846ValfsTer?
XM_005257984.1:c.2535_2536dup XP_005258041.1:p.Ala846ValfsTer?
XM_006721922.1:c.2565_2566dup XP_006721985.1:p.Ala856ValfsTer?
XM_006721923.2:c.2526_2527dup XP_006721986.1:p.Ala843ValfsTer?
XM_006721924.1:c.2565_2566dup XP_006721987.1:p.Ala856ValfsTer?
XM_006721925.1:c.2565_2566dup XP_006721988.1:p.Ala856ValfsTer?
XM_006721926.2:c.2565_2566dup XP_006721989.1:p.Ala856ValfsTer?
XM_006721927.1:c.2565_2566dup XP_006721990.1:p.Ala856ValfsTer?
XM_006721928.2:c.2565_2566dup XP_006721991.1:p.Ala856ValfsTer?
XM_011524852.1:c.2562_2563dup XP_011523154.1:p.Ala855ValfsTer?
XM_011524853.1:c.2526_2527dup XP_011523155.1:p.Ala843ValfsTer?
XM_011524854.1:c.2526_2527dup XP_011523156.1:p.Ala843ValfsTer?
XM_011524855.1:c.2526_2527dup XP_011523157.1:p.Ala843ValfsTer?
XM_011524856.1:c.2526_2527dup XP_011523158.1:p.Ala843ValfsTer?
XM_011524857.1:c.2565_2566dup XP_011523159.1:p.Ala856ValfsTer?
NM_001042492.3:c.2535_2536dup MANE Select NP_001035957.1:p.Ala846ValfsTer?