Canonical Allele Identifier: CA982981217

Gene: NF1

Linked Data

• dbSNP Id: rs2069585567
• gnomAD v3: 17-31334332-TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCC-T
• gnomAD v4: 17-31334332-TGAAAAAAATATTCAGAGCCTACTGCATGTATAGCATAATCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334334_31334376del , CM000679.2:g.31334334_31334376del	GRCh38
NC_000017.10:g.29661352_29661394del , CM000679.1:g.29661352_29661394del	GRCh37
NC_000017.9:g.26685478_26685520del	NCBI36
NG_009018.1:g.244358_244400del , LRG_214:g.244358_244400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2001-504_2001-462del	ENSP00000492721.2:n.2001-504_2001-462del
ENST00000696138.1:c.5795-504_5795-462del	ENSP00000512431.1:n.5795-504_5795-462del
ENST00000684826.1:c.377-504_377-462del	ENSP00000509994.1:n.377-504_377-462del
ENST00000687027.1:c.-32-504_-32-462del	ENSP00000508715.1:n.-32-504_-32-462del
ENST00000687863.1:n.2458-504_2458-462del
ENST00000691014.1:c.5843-504_5843-462del	ENSP00000510595.1:n.5843-504_5843-462del
ENST00000693617.1:c.377-504_377-462del	ENSP00000510031.1:n.377-504_377-462del
ENST00000358273.9:c.5813-504_5813-462del MANE Select	ENSP00000351015.4:n.5813-504_5813-462del
ENST00000356175.7:c.5750-504_5750-462del	ENSP00000348498.3:n.5750-504_5750-462del
ENST00000358273.8:c.5813-504_5813-462del	ENSP00000351015.4:n.5813-504_5813-462del
ENST00000456735.6:c.4748-504_4748-462del	ENSP00000389907.2:n.4748-504_4748-462del
ENST00000479536.2:c.171-330_171-288del
ENST00000579081.5:c.5949-504_5949-462del	ENSP00000462408.1:n.5949-504_5949-462del
ENST00000581113.6:n.1130-504_1130-462del
NM_000267.3:c.5750-504_5750-462del , LRG_214t1:c.5750-504_5750-462del	NP_000258.1:n.5750-504_5750-462del
NM_001042492.2:c.5813-504_5813-462del , LRG_214t2:c.5813-504_5813-462del	NP_001035957.1:n.5813-504_5813-462del
XM_005257983.1:c.5813-504_5813-462del	XP_005258040.1:n.5813-504_5813-462del
XM_005257984.1:c.5750-504_5750-462del	XP_005258041.1:n.5750-504_5750-462del
XM_006721922.1:c.5843-504_5843-462del	XP_006721985.1:n.5843-504_5843-462del
XM_006721923.2:c.5804-504_5804-462del	XP_006721986.1:n.5804-504_5804-462del
XM_006721924.1:c.5843-504_5843-462del	XP_006721987.1:n.5843-504_5843-462del
XM_006721925.1:c.5780-504_5780-462del	XP_006721988.1:n.5780-504_5780-462del
XM_006721926.2:c.5843-504_5843-462del	XP_006721989.1:n.5843-504_5843-462del
XM_006721927.1:c.5843-504_5843-462del	XP_006721990.1:n.5843-504_5843-462del
XM_011524852.1:c.5840-504_5840-462del	XP_011523154.1:n.5840-504_5840-462del
XM_011524853.1:c.5804-504_5804-462del	XP_011523155.1:n.5804-504_5804-462del
XM_011524854.1:c.5804-504_5804-462del	XP_011523156.1:n.5804-504_5804-462del
XM_011524855.1:c.5804-504_5804-462del	XP_011523157.1:n.5804-504_5804-462del
XM_011524856.1:c.5804-504_5804-462del	XP_011523158.1:n.5804-504_5804-462del
XM_011524857.1:c.5843-504_5843-462del	XP_011523159.1:n.5843-504_5843-462del
NM_001042492.3:c.5813-504_5813-462del MANE Select	NP_001035957.1:n.5813-504_5813-462del