Canonical Allele Identifier: CA2695225453

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343129_31343130dup , CM000679.2:g.31343129_31343130dup	GRCh38
NC_000017.10:g.29670147_29670148dup , CM000679.1:g.29670147_29670148dup	GRCh37
NC_000017.9:g.26694273_26694274dup	NCBI36
NG_009018.1:g.253153_253154dup , LRG_214:g.253153_253154dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7165_7166dup	ENSP00000512431.1:p.Leu2389PhefsTer2
ENST00000684826.1:c.1747_1748dup	ENSP00000509994.1:p.Leu583PhefsTer2
ENST00000687027.1:c.1339_1340dup	ENSP00000508715.1:p.Leu447PhefsTer2
ENST00000687863.1:n.3828_3829dup
ENST00000689464.1:c.122_123dup
ENST00000691014.1:c.7213_7214dup	ENSP00000510595.1:p.Leu2405PhefsTer2
ENST00000693617.1:c.1747_1748dup	ENSP00000510031.1:p.Leu583PhefsTer2
ENST00000358273.9:c.7183_7184dup MANE Select	ENSP00000351015.4:p.Leu2395PhefsTer2
ENST00000356175.7:c.7120_7121dup	ENSP00000348498.3:p.Leu2374PhefsTer2
ENST00000358273.8:c.7183_7184dup	ENSP00000351015.4:p.Leu2395PhefsTer2
ENST00000456735.6:c.6118_6119dup	ENSP00000389907.2:p.Leu2040PhefsTer2
ENST00000471572.6:c.566_567dup
ENST00000579081.5:c.7319_7320dup	ENSP00000462408.1:n.7319_7320dup
ENST00000581790.5:c.326_327dup
ENST00000582892.1:n.425_426dup
NM_000267.3:c.7120_7121dup , LRG_214t1:c.7120_7121dup	NP_000258.1:p.Leu2374PhefsTer2
NM_001042492.2:c.7183_7184dup , LRG_214t2:c.7183_7184dup	NP_001035957.1:p.Leu2395PhefsTer2
XM_005257983.1:c.7183_7184dup	XP_005258040.1:p.Leu2395PhefsTer2
XM_005257984.1:c.7120_7121dup	XP_005258041.1:p.Leu2374PhefsTer2
XM_006721922.1:c.7213_7214dup	XP_006721985.1:p.Leu2405PhefsTer2
XM_006721923.2:c.7174_7175dup	XP_006721986.1:p.Leu2392PhefsTer2
XM_006721924.1:c.7213_7214dup	XP_006721987.1:p.Leu2405PhefsTer2
XM_006721925.1:c.7150_7151dup	XP_006721988.1:p.Leu2384PhefsTer2
XM_006721926.2:c.7213_7214dup	XP_006721989.1:p.Leu2405PhefsTer2
XM_006721927.1:c.7213_7214dup	XP_006721990.1:p.Leu2405PhefsTer2
XM_011524852.1:c.7210_7211dup	XP_011523154.1:p.Leu2404PhefsTer2
XM_011524853.1:c.7174_7175dup	XP_011523155.1:p.Leu2392PhefsTer2
XM_011524854.1:c.7174_7175dup	XP_011523156.1:p.Leu2392PhefsTer2
XM_011524855.1:c.7174_7175dup	XP_011523157.1:p.Leu2392PhefsTer2
XM_011524856.1:c.7174_7175dup	XP_011523158.1:p.Leu2392PhefsTer2
XM_011524857.1:c.7213_7214dup	XP_011523159.1:p.Leu2405PhefsTer2
NM_001042492.3:c.7183_7184dup MANE Select	NP_001035957.1:p.Leu2395PhefsTer2