Canonical Allele Identifier: CA2255578992

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265317_31265318delinsAT , CM000679.2:g.31265317_31265318delinsAT	GRCh38
NC_000017.10:g.29592335_29592336delinsAT , CM000679.1:g.29592335_29592336delinsAT	GRCh37
NC_000017.9:g.26616461_26616462delinsAT	NCBI36
NG_009018.1:g.175341_175342delinsAT , LRG_214:g.175341_175342delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.615_616delinsAT	ENSP00000492721.2:n.615_616delinsAT
ENST00000696138.1:c.4795_4796delinsAT	ENSP00000512431.1:p.Ile1599=
ENST00000696140.1:n.919_920delinsAT
ENST00000696141.1:c.804_805delinsAT
ENST00000687863.1:n.1458_1459delinsAT
ENST00000691014.1:c.4843_4844delinsAT	ENSP00000510595.1:p.Ile1615=
ENST00000358273.9:c.4813_4814delinsAT MANE Select	ENSP00000351015.4:p.Ile1605=
ENST00000356175.7:c.4750_4751delinsAT	ENSP00000348498.3:p.Ile1584=
ENST00000358273.8:c.4813_4814delinsAT	ENSP00000351015.4:p.Ile1605=
ENST00000456735.6:c.3748_3749delinsAT	ENSP00000389907.2:p.Ile1250=
ENST00000493220.5:n.3286_3287delinsAT
ENST00000579081.5:c.4852_4853delinsAT	ENSP00000462408.1:p.Ile1618=
NM_000267.3:c.4750_4751delinsAT , LRG_214t1:c.4750_4751delinsAT	NP_000258.1:p.Ile1584=
NM_001042492.2:c.4813_4814delinsAT , LRG_214t2:c.4813_4814delinsAT	NP_001035957.1:p.Ile1605=
XM_005257983.1:c.4813_4814delinsAT	XP_005258040.1:p.Ile1605=
XM_005257984.1:c.4750_4751delinsAT	XP_005258041.1:p.Ile1584=
XM_006721922.1:c.4843_4844delinsAT	XP_006721985.1:p.Ile1615=
XM_006721923.2:c.4804_4805delinsAT	XP_006721986.1:p.Ile1602=
XM_006721924.1:c.4843_4844delinsAT	XP_006721987.1:p.Ile1615=
XM_006721925.1:c.4780_4781delinsAT	XP_006721988.1:p.Ile1594=
XM_006721926.2:c.4843_4844delinsAT	XP_006721989.1:p.Ile1615=
XM_006721927.1:c.4843_4844delinsAT	XP_006721990.1:p.Ile1615=
XM_006721928.2:c.4843_4844delinsAT	XP_006721991.1:p.Ile1615=
XM_011524852.1:c.4840_4841delinsAT	XP_011523154.1:p.Ile1614=
XM_011524853.1:c.4804_4805delinsAT	XP_011523155.1:p.Ile1602=
XM_011524854.1:c.4804_4805delinsAT	XP_011523156.1:p.Ile1602=
XM_011524855.1:c.4804_4805delinsAT	XP_011523157.1:p.Ile1602=
XM_011524856.1:c.4804_4805delinsAT	XP_011523158.1:p.Ile1602=
XM_011524857.1:c.4843_4844delinsAT	XP_011523159.1:p.Ile1615=
NM_001042492.3:c.4813_4814delinsAT MANE Select	NP_001035957.1:p.Ile1605=