Canonical Allele Identifier: CA2637081144

Gene: NF1

Linked Data

• gnomAD v4: 17-31258969-C-CTTAATGTATAGACTTCATACAATAAATAATCAGATTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31259000_31259001insAGATTATTTAATGTATAGACTTCATACAATAAATAATC , CM000679.2:g.31259000_31259001insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	GRCh38
NC_000017.10:g.29586018_29586019insAGATTATTTAATGTATAGACTTCATACAATAAATAATC , CM000679.1:g.29586018_29586019insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	GRCh37
NC_000017.9:g.26610144_26610145insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	NCBI36
NG_009018.1:g.169024_169025insAGATTATTTAATGTATAGACTTCATACAATAAATAATC , LRG_214:g.169024_169025insAGATTATTTAATGTATAGACTTCATACAATAAATAATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.121-32_121-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	ENSP00000492721.2:n.121-32_121-31insAGATT...
ENST00000696138.1:c.4315-32_4315-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	ENSP00000512431.1:n.4315-32_4315-31insAGA...
ENST00000696140.1:n.439-32_439-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
ENST00000696141.1:c.324-32_324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
ENST00000687863.1:n.978-32_978-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
ENST00000691014.1:c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	ENSP00000510595.1:n.4363-32_4363-31insAGA...
ENST00000691649.1:n.305-32_305-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
ENST00000358273.9:c.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC MANE Select	ENSP00000351015.4:n.4333-32_4333-31insAGA...
ENST00000356175.7:c.4270-32_4270-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	ENSP00000348498.3:n.4270-32_4270-31insAGA...
ENST00000358273.8:c.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	ENSP00000351015.4:n.4333-32_4333-31insAGA...
ENST00000456735.6:c.3268-32_3268-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	ENSP00000389907.2:n.3268-32_3268-31insAGA...
ENST00000466819.5:c.849-32_849-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
ENST00000479614.1:c.786-32_786-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
ENST00000493220.5:n.2806-32_2806-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
ENST00000579081.5:c.4372-32_4372-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	ENSP00000462408.1:n.4372-32_4372-31insAGA...
NM_000267.3:c.4270-32_4270-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC , LRG_214t1:c.4270-32_4270-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	NP_000258.1:n.4270-32_4270-31insAGATTATTT...
NM_001042492.2:c.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC , LRG_214t2:c.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	NP_001035957.1:n.4333-32_4333-31insAGATTA...
XM_005257983.1:c.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_005258040.1:n.4333-32_4333-31insAGATTA...
XM_005257984.1:c.4270-32_4270-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_005258041.1:n.4270-32_4270-31insAGATTA...
XM_006721922.1:c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_006721985.1:n.4363-32_4363-31insAGATTA...
XM_006721923.2:c.4324-32_4324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_006721986.1:n.4324-32_4324-31insAGATTA...
XM_006721924.1:c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_006721987.1:n.4363-32_4363-31insAGATTA...
XM_006721925.1:c.4300-32_4300-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_006721988.1:n.4300-32_4300-31insAGATTA...
XM_006721926.2:c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_006721989.1:n.4363-32_4363-31insAGATTA...
XM_006721927.1:c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_006721990.1:n.4363-32_4363-31insAGATTA...
XM_006721928.2:c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_006721991.1:n.4363-32_4363-31insAGATTA...
XM_011524852.1:c.4360-32_4360-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_011523154.1:n.4360-32_4360-31insAGATTA...
XM_011524853.1:c.4324-32_4324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_011523155.1:n.4324-32_4324-31insAGATTA...
XM_011524854.1:c.4324-32_4324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_011523156.1:n.4324-32_4324-31insAGATTA...
XM_011524855.1:c.4324-32_4324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_011523157.1:n.4324-32_4324-31insAGATTA...
XM_011524856.1:c.4324-32_4324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_011523158.1:n.4324-32_4324-31insAGATTA...
XM_011524857.1:c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC	XP_011523159.1:n.4363-32_4363-31insAGATTA...
NM_001042492.3:c.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC MANE Select	NP_001035957.1:n.4333-32_4333-31insAGATTA...