Canonical Allele Identifier: CA2695201293

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325886delinsAA , CM000679.2:g.31325886delinsAA	GRCh38
NC_000017.10:g.29652904delinsAA , CM000679.1:g.29652904delinsAA	GRCh37
NC_000017.9:g.26677030delinsAA	NCBI36
NG_009018.1:g.235910delinsAA , LRG_214:g.235910delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4902delinsAA MANE Select	NP_001035957.1:p.Tyr1634Ter
ENST00000358273.9:c.4902delinsAA MANE Select	ENSP00000351015.4:p.Tyr1634Ter
NM_000267.3:c.4839delinsAA , LRG_214t1:c.4839delinsAA	NP_000258.1:p.Tyr1613Ter
NM_001042492.2:c.4902delinsAA , LRG_214t2:c.4902delinsAA	NP_001035957.1:p.Tyr1634Ter
ENST00000356175.7:c.4839delinsAA	ENSP00000348498.3:p.Tyr1613Ter
ENST00000358273.8:c.4902delinsAA	ENSP00000351015.4:p.Tyr1634Ter
ENST00000456735.6:c.3837delinsAA	ENSP00000389907.2:p.Tyr1279Ter
ENST00000493220.5:n.3375delinsAA
ENST00000579081.5:c.5038delinsAA	ENSP00000462408.1:n.5038delinsAA
ENST00000581113.6:n.219delinsAA
ENST00000581113.7:c.1090delinsAA	ENSP00000492721.2:n.1090delinsAA
ENST00000684826.1:c.-535delinsAA	ENSP00000509994.1:n.-535delinsAA
ENST00000687027.1:c.-602delinsAA	ENSP00000508715.1:n.-602delinsAA
ENST00000687863.1:n.1547delinsAA
ENST00000691014.1:c.4932delinsAA	ENSP00000510595.1:p.Tyr1644Ter
ENST00000693617.1:c.-535delinsAA	ENSP00000510031.1:n.-535delinsAA
ENST00000696138.1:c.4884delinsAA	ENSP00000512431.1:p.Tyr1628Ter
XM_005257983.1:c.4902delinsAA	XP_005258040.1:p.Tyr1634Ter
XM_005257984.1:c.4839delinsAA	XP_005258041.1:p.Tyr1613Ter
XM_006721922.1:c.4932delinsAA	XP_006721985.1:p.Tyr1644Ter
XM_006721923.2:c.4893delinsAA	XP_006721986.1:p.Tyr1631Ter
XM_006721924.1:c.4932delinsAA	XP_006721987.1:p.Tyr1644Ter
XM_006721925.1:c.4869delinsAA	XP_006721988.1:p.Tyr1623Ter
XM_006721926.2:c.4932delinsAA	XP_006721989.1:p.Tyr1644Ter
XM_006721927.1:c.4932delinsAA	XP_006721990.1:p.Tyr1644Ter
XM_011524852.1:c.4929delinsAA	XP_011523154.1:p.Tyr1643Ter
XM_011524853.1:c.4893delinsAA	XP_011523155.1:p.Tyr1631Ter
XM_011524854.1:c.4893delinsAA	XP_011523156.1:p.Tyr1631Ter
XM_011524855.1:c.4893delinsAA	XP_011523157.1:p.Tyr1631Ter
XM_011524856.1:c.4893delinsAA	XP_011523158.1:p.Tyr1631Ter
XM_011524857.1:c.4932delinsAA	XP_011523159.1:p.Tyr1644Ter