Canonical Allele Identifier: CA728009022

Gene: NF1

Linked Data

• dbSNP Id: rs1380221801
• gnomAD v3: 17-31334582-CAAGA-C
• gnomAD v4: 17-31334582-CAAGA-C
• MyVariant Identifiers: chr17:g.29661601_29661604del (hg19) ; chr17:g.31334583_31334586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334586_31334589del , CM000679.2:g.31334586_31334589del	GRCh38
NC_000017.10:g.29661604_29661607del , CM000679.1:g.29661604_29661607del	GRCh37
NC_000017.9:g.26685730_26685733del	NCBI36
NG_009018.1:g.244610_244613del , LRG_214:g.244610_244613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2001-252_2001-249del	ENSP00000492721.2:n.2001-252_2001-249del
ENST00000696138.1:c.5795-252_5795-249del	ENSP00000512431.1:n.5795-252_5795-249del
ENST00000684826.1:c.377-252_377-249del	ENSP00000509994.1:n.377-252_377-249del
ENST00000687027.1:c.-32-252_-32-249del	ENSP00000508715.1:n.-32-252_-32-249del
ENST00000687863.1:n.2458-252_2458-249del
ENST00000691014.1:c.5843-252_5843-249del	ENSP00000510595.1:n.5843-252_5843-249del
ENST00000693617.1:c.377-252_377-249del	ENSP00000510031.1:n.377-252_377-249del
ENST00000358273.9:c.5813-252_5813-249del MANE Select	ENSP00000351015.4:n.5813-252_5813-249del
ENST00000356175.7:c.5750-252_5750-249del	ENSP00000348498.3:n.5750-252_5750-249del
ENST00000358273.8:c.5813-252_5813-249del	ENSP00000351015.4:n.5813-252_5813-249del
ENST00000456735.6:c.4748-252_4748-249del	ENSP00000389907.2:n.4748-252_4748-249del
ENST00000479536.2:c.171-78_171-75del
ENST00000579081.5:c.5949-252_5949-249del	ENSP00000462408.1:n.5949-252_5949-249del
ENST00000581113.6:n.1130-252_1130-249del
NM_000267.3:c.5750-252_5750-249del , LRG_214t1:c.5750-252_5750-249del	NP_000258.1:n.5750-252_5750-249del
NM_001042492.2:c.5813-252_5813-249del , LRG_214t2:c.5813-252_5813-249del	NP_001035957.1:n.5813-252_5813-249del
XM_005257983.1:c.5813-252_5813-249del	XP_005258040.1:n.5813-252_5813-249del
XM_005257984.1:c.5750-252_5750-249del	XP_005258041.1:n.5750-252_5750-249del
XM_006721922.1:c.5843-252_5843-249del	XP_006721985.1:n.5843-252_5843-249del
XM_006721923.2:c.5804-252_5804-249del	XP_006721986.1:n.5804-252_5804-249del
XM_006721924.1:c.5843-252_5843-249del	XP_006721987.1:n.5843-252_5843-249del
XM_006721925.1:c.5780-252_5780-249del	XP_006721988.1:n.5780-252_5780-249del
XM_006721926.2:c.5843-252_5843-249del	XP_006721989.1:n.5843-252_5843-249del
XM_006721927.1:c.5843-252_5843-249del	XP_006721990.1:n.5843-252_5843-249del
XM_011524852.1:c.5840-252_5840-249del	XP_011523154.1:n.5840-252_5840-249del
XM_011524853.1:c.5804-252_5804-249del	XP_011523155.1:n.5804-252_5804-249del
XM_011524854.1:c.5804-252_5804-249del	XP_011523156.1:n.5804-252_5804-249del
XM_011524855.1:c.5804-252_5804-249del	XP_011523157.1:n.5804-252_5804-249del
XM_011524856.1:c.5804-252_5804-249del	XP_011523158.1:n.5804-252_5804-249del
XM_011524857.1:c.5843-252_5843-249del	XP_011523159.1:n.5843-252_5843-249del
NM_001042492.3:c.5813-252_5813-249del MANE Select	NP_001035957.1:n.5813-252_5813-249del