Canonical Allele Identifier: CA2576223568

Gene: NF1

Linked Data

• gnomAD v4: 17-31334739-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334741_31334742del , CM000679.2:g.31334741_31334742del	GRCh38
NC_000017.10:g.29661759_29661760del , CM000679.1:g.29661759_29661760del	GRCh37
NC_000017.9:g.26685885_26685886del	NCBI36
NG_009018.1:g.244765_244766del , LRG_214:g.244765_244766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.2001-97_2001-96del	ENSP00000492721.2:n.2001-97_2001-96del
ENST00000696138.1:c.5795-97_5795-96del	ENSP00000512431.1:n.5795-97_5795-96del
ENST00000684826.1:c.377-97_377-96del	ENSP00000509994.1:n.377-97_377-96del
ENST00000687027.1:c.-32-97_-32-96del	ENSP00000508715.1:n.-32-97_-32-96del
ENST00000687863.1:n.2458-97_2458-96del
ENST00000691014.1:c.5843-97_5843-96del	ENSP00000510595.1:n.5843-97_5843-96del
ENST00000693617.1:c.377-97_377-96del	ENSP00000510031.1:n.377-97_377-96del
ENST00000358273.9:c.5813-97_5813-96del MANE Select	ENSP00000351015.4:n.5813-97_5813-96del
ENST00000356175.7:c.5750-97_5750-96del	ENSP00000348498.3:n.5750-97_5750-96del
ENST00000358273.8:c.5813-97_5813-96del	ENSP00000351015.4:n.5813-97_5813-96del
ENST00000456735.6:c.4748-97_4748-96del	ENSP00000389907.2:n.4748-97_4748-96del
ENST00000479536.2:c.237+11_237+12del
ENST00000579081.5:c.5949-97_5949-96del	ENSP00000462408.1:n.5949-97_5949-96del
ENST00000581113.6:n.1130-97_1130-96del
NM_000267.3:c.5750-97_5750-96del , LRG_214t1:c.5750-97_5750-96del	NP_000258.1:n.5750-97_5750-96del
NM_001042492.2:c.5813-97_5813-96del , LRG_214t2:c.5813-97_5813-96del	NP_001035957.1:n.5813-97_5813-96del
XM_005257983.1:c.5813-97_5813-96del	XP_005258040.1:n.5813-97_5813-96del
XM_005257984.1:c.5750-97_5750-96del	XP_005258041.1:n.5750-97_5750-96del
XM_006721922.1:c.5843-97_5843-96del	XP_006721985.1:n.5843-97_5843-96del
XM_006721923.2:c.5804-97_5804-96del	XP_006721986.1:n.5804-97_5804-96del
XM_006721924.1:c.5843-97_5843-96del	XP_006721987.1:n.5843-97_5843-96del
XM_006721925.1:c.5780-97_5780-96del	XP_006721988.1:n.5780-97_5780-96del
XM_006721926.2:c.5843-97_5843-96del	XP_006721989.1:n.5843-97_5843-96del
XM_006721927.1:c.5843-97_5843-96del	XP_006721990.1:n.5843-97_5843-96del
XM_011524852.1:c.5840-97_5840-96del	XP_011523154.1:n.5840-97_5840-96del
XM_011524853.1:c.5804-97_5804-96del	XP_011523155.1:n.5804-97_5804-96del
XM_011524854.1:c.5804-97_5804-96del	XP_011523156.1:n.5804-97_5804-96del
XM_011524855.1:c.5804-97_5804-96del	XP_011523157.1:n.5804-97_5804-96del
XM_011524856.1:c.5804-97_5804-96del	XP_011523158.1:n.5804-97_5804-96del
XM_011524857.1:c.5843-97_5843-96del	XP_011523159.1:n.5843-97_5843-96del
NM_001042492.3:c.5813-97_5813-96del MANE Select	NP_001035957.1:n.5813-97_5813-96del