Canonical Allele Identifier: CA2580093336
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2072982
ClinVar RCV Id: RCV002967520

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265269dup , CM000679.2:g.31265269dup GRCh38
NC_000017.10:g.29592287dup , CM000679.1:g.29592287dup GRCh37
NC_000017.9:g.26616413dup NCBI36
NG_009018.1:g.175293dup , LRG_214:g.175293dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.567dup ENSP00000492721.2:n.567dup
ENST00000696138.1:c.4747dup ENSP00000512431.1:p.Thr1583AsnfsTer?
ENST00000696140.1:n.871dup
ENST00000696141.1:c.756dup
ENST00000687863.1:n.1410dup
ENST00000691014.1:c.4795dup ENSP00000510595.1:p.Thr1599AsnfsTer?
ENST00000358273.9:c.4765dup MANE Select ENSP00000351015.4:p.Thr1589AsnfsTer?
ENST00000356175.7:c.4702dup ENSP00000348498.3:p.Thr1568AsnfsTer?
ENST00000358273.8:c.4765dup ENSP00000351015.4:p.Thr1589AsnfsTer?
ENST00000456735.6:c.3700dup ENSP00000389907.2:p.Thr1234AsnfsTer?
ENST00000493220.5:n.3238dup
ENST00000579081.5:c.4804dup ENSP00000462408.1:p.Thr1602AsnfsTer?
NM_000267.3:c.4702dup , LRG_214t1:c.4702dup NP_000258.1:p.Thr1568AsnfsTer?
NM_001042492.2:c.4765dup , LRG_214t2:c.4765dup NP_001035957.1:p.Thr1589AsnfsTer?
XM_005257983.1:c.4765dup XP_005258040.1:p.Thr1589AsnfsTer?
XM_005257984.1:c.4702dup XP_005258041.1:p.Thr1568AsnfsTer?
XM_006721922.1:c.4795dup XP_006721985.1:p.Thr1599AsnfsTer?
XM_006721923.2:c.4756dup XP_006721986.1:p.Thr1586AsnfsTer?
XM_006721924.1:c.4795dup XP_006721987.1:p.Thr1599AsnfsTer?
XM_006721925.1:c.4732dup XP_006721988.1:p.Thr1578AsnfsTer?
XM_006721926.2:c.4795dup XP_006721989.1:p.Thr1599AsnfsTer?
XM_006721927.1:c.4795dup XP_006721990.1:p.Thr1599AsnfsTer?
XM_006721928.2:c.4795dup XP_006721991.1:p.Thr1599AsnfsTer?
XM_011524852.1:c.4792dup XP_011523154.1:p.Thr1598AsnfsTer?
XM_011524853.1:c.4756dup XP_011523155.1:p.Thr1586AsnfsTer?
XM_011524854.1:c.4756dup XP_011523156.1:p.Thr1586AsnfsTer?
XM_011524855.1:c.4756dup XP_011523157.1:p.Thr1586AsnfsTer?
XM_011524856.1:c.4756dup XP_011523158.1:p.Thr1586AsnfsTer?
XM_011524857.1:c.4795dup XP_011523159.1:p.Thr1599AsnfsTer?
NM_001042492.3:c.4765dup MANE Select NP_001035957.1:p.Thr1589AsnfsTer?