Canonical Allele Identifier: CA2695225422

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265268_31265275del , CM000679.2:g.31265268_31265275del	GRCh38
NC_000017.10:g.29592286_29592293del , CM000679.1:g.29592286_29592293del	GRCh37
NC_000017.9:g.26616412_26616419del	NCBI36
NG_009018.1:g.175292_175299del , LRG_214:g.175292_175299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.566_573del	ENSP00000492721.2:n.566_573del
ENST00000696138.1:c.4746_4753del	ENSP00000512431.1:p.Thr1583TyrfsTer?
ENST00000696140.1:n.870_877del
ENST00000696141.1:c.755_762del
ENST00000687863.1:n.1409_1416del
ENST00000691014.1:c.4794_4801del	ENSP00000510595.1:p.Thr1599TyrfsTer?
ENST00000358273.9:c.4764_4771del MANE Select	ENSP00000351015.4:p.Thr1589TyrfsTer?
ENST00000356175.7:c.4701_4708del	ENSP00000348498.3:p.Thr1568TyrfsTer?
ENST00000358273.8:c.4764_4771del	ENSP00000351015.4:p.Thr1589TyrfsTer?
ENST00000456735.6:c.3699_3706del	ENSP00000389907.2:p.Thr1234TyrfsTer?
ENST00000493220.5:n.3237_3244del
ENST00000579081.5:c.4803_4810del	ENSP00000462408.1:p.Thr1602TyrfsTer?
NM_000267.3:c.4701_4708del , LRG_214t1:c.4701_4708del	NP_000258.1:p.Thr1568TyrfsTer?
NM_001042492.2:c.4764_4771del , LRG_214t2:c.4764_4771del	NP_001035957.1:p.Thr1589TyrfsTer?
XM_005257983.1:c.4764_4771del	XP_005258040.1:p.Thr1589TyrfsTer?
XM_005257984.1:c.4701_4708del	XP_005258041.1:p.Thr1568TyrfsTer?
XM_006721922.1:c.4794_4801del	XP_006721985.1:p.Thr1599TyrfsTer?
XM_006721923.2:c.4755_4762del	XP_006721986.1:p.Thr1586TyrfsTer?
XM_006721924.1:c.4794_4801del	XP_006721987.1:p.Thr1599TyrfsTer?
XM_006721925.1:c.4731_4738del	XP_006721988.1:p.Thr1578TyrfsTer?
XM_006721926.2:c.4794_4801del	XP_006721989.1:p.Thr1599TyrfsTer?
XM_006721927.1:c.4794_4801del	XP_006721990.1:p.Thr1599TyrfsTer?
XM_006721928.2:c.4794_4801del	XP_006721991.1:p.Thr1599TyrfsTer?
XM_011524852.1:c.4791_4798del	XP_011523154.1:p.Thr1598TyrfsTer?
XM_011524853.1:c.4755_4762del	XP_011523155.1:p.Thr1586TyrfsTer?
XM_011524854.1:c.4755_4762del	XP_011523156.1:p.Thr1586TyrfsTer?
XM_011524855.1:c.4755_4762del	XP_011523157.1:p.Thr1586TyrfsTer?
XM_011524856.1:c.4755_4762del	XP_011523158.1:p.Thr1586TyrfsTer?
XM_011524857.1:c.4794_4801del	XP_011523159.1:p.Thr1599TyrfsTer?
NM_001042492.3:c.4764_4771del MANE Select	NP_001035957.1:p.Thr1589TyrfsTer?