Canonical Allele Identifier: CA982981997

Gene: NF1

Linked Data

• dbSNP Id: rs2069862858
• gnomAD v3: 17-31342959-GA-G
• gnomAD v4: 17-31342959-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31342962del , CM000679.2:g.31342962del	GRCh38
NC_000017.10:g.29669980del , CM000679.1:g.29669980del	GRCh37
NC_000017.9:g.26694106del	NCBI36
NG_009018.1:g.252986del , LRG_214:g.252986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7045-47del	ENSP00000512431.1:n.7045-47del
ENST00000684826.1:c.1627-47del	ENSP00000509994.1:n.1627-47del
ENST00000687027.1:c.1219-47del	ENSP00000508715.1:n.1219-47del
ENST00000687863.1:n.3708-47del
ENST00000691014.1:c.7093-47del	ENSP00000510595.1:n.7093-47del
ENST00000693617.1:c.1627-47del	ENSP00000510031.1:n.1627-47del
ENST00000358273.9:c.7063-47del MANE Select	ENSP00000351015.4:n.7063-47del
ENST00000356175.7:c.7000-47del	ENSP00000348498.3:n.7000-47del
ENST00000358273.8:c.7063-47del	ENSP00000351015.4:n.7063-47del
ENST00000456735.6:c.5998-47del	ENSP00000389907.2:n.5998-47del
ENST00000471572.6:c.446-47del
ENST00000579081.5:c.7199-47del	ENSP00000462408.1:n.7199-47del
ENST00000581790.5:c.206-47del
ENST00000582892.1:n.305-47del
ENST00000584328.1:n.477-47del
NM_000267.3:c.7000-47del , LRG_214t1:c.7000-47del	NP_000258.1:n.7000-47del
NM_001042492.2:c.7063-47del , LRG_214t2:c.7063-47del	NP_001035957.1:n.7063-47del
XM_005257983.1:c.7063-47del	XP_005258040.1:n.7063-47del
XM_005257984.1:c.7000-47del	XP_005258041.1:n.7000-47del
XM_006721922.1:c.7093-47del	XP_006721985.1:n.7093-47del
XM_006721923.2:c.7054-47del	XP_006721986.1:n.7054-47del
XM_006721924.1:c.7093-47del	XP_006721987.1:n.7093-47del
XM_006721925.1:c.7030-47del	XP_006721988.1:n.7030-47del
XM_006721926.2:c.7093-47del	XP_006721989.1:n.7093-47del
XM_006721927.1:c.7093-47del	XP_006721990.1:n.7093-47del
XM_011524852.1:c.7090-47del	XP_011523154.1:n.7090-47del
XM_011524853.1:c.7054-47del	XP_011523155.1:n.7054-47del
XM_011524854.1:c.7054-47del	XP_011523156.1:n.7054-47del
XM_011524855.1:c.7054-47del	XP_011523157.1:n.7054-47del
XM_011524856.1:c.7054-47del	XP_011523158.1:n.7054-47del
XM_011524857.1:c.7093-47del	XP_011523159.1:n.7093-47del
NM_001042492.3:c.7063-47del MANE Select	NP_001035957.1:n.7063-47del