Canonical Allele Identifier: CA728029984

Gene: NF1

Linked Data

• dbSNP Id: rs1381152098
• gnomAD v4: 17-31342955-TAAAG-T
• MyVariant Identifiers: chr17:g.29669974_29669977del (hg19) ; chr17:g.31342956_31342959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31342960_31342963del , CM000679.2:g.31342960_31342963del	GRCh38
NC_000017.10:g.29669978_29669981del , CM000679.1:g.29669978_29669981del	GRCh37
NC_000017.9:g.26694104_26694107del	NCBI36
NG_009018.1:g.252984_252987del , LRG_214:g.252984_252987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7045-49_7045-46del	ENSP00000512431.1:n.7045-49_7045-46del
ENST00000684826.1:c.1627-49_1627-46del	ENSP00000509994.1:n.1627-49_1627-46del
ENST00000687027.1:c.1219-49_1219-46del	ENSP00000508715.1:n.1219-49_1219-46del
ENST00000687863.1:n.3708-49_3708-46del
ENST00000691014.1:c.7093-49_7093-46del	ENSP00000510595.1:n.7093-49_7093-46del
ENST00000693617.1:c.1627-49_1627-46del	ENSP00000510031.1:n.1627-49_1627-46del
ENST00000358273.9:c.7063-49_7063-46del MANE Select	ENSP00000351015.4:n.7063-49_7063-46del
ENST00000356175.7:c.7000-49_7000-46del	ENSP00000348498.3:n.7000-49_7000-46del
ENST00000358273.8:c.7063-49_7063-46del	ENSP00000351015.4:n.7063-49_7063-46del
ENST00000456735.6:c.5998-49_5998-46del	ENSP00000389907.2:n.5998-49_5998-46del
ENST00000471572.6:c.446-49_446-46del
ENST00000579081.5:c.7199-49_7199-46del	ENSP00000462408.1:n.7199-49_7199-46del
ENST00000581790.5:c.206-49_206-46del
ENST00000582892.1:n.305-49_305-46del
ENST00000584328.1:n.477-49_477-46del
NM_000267.3:c.7000-49_7000-46del , LRG_214t1:c.7000-49_7000-46del	NP_000258.1:n.7000-49_7000-46del
NM_001042492.2:c.7063-49_7063-46del , LRG_214t2:c.7063-49_7063-46del	NP_001035957.1:n.7063-49_7063-46del
XM_005257983.1:c.7063-49_7063-46del	XP_005258040.1:n.7063-49_7063-46del
XM_005257984.1:c.7000-49_7000-46del	XP_005258041.1:n.7000-49_7000-46del
XM_006721922.1:c.7093-49_7093-46del	XP_006721985.1:n.7093-49_7093-46del
XM_006721923.2:c.7054-49_7054-46del	XP_006721986.1:n.7054-49_7054-46del
XM_006721924.1:c.7093-49_7093-46del	XP_006721987.1:n.7093-49_7093-46del
XM_006721925.1:c.7030-49_7030-46del	XP_006721988.1:n.7030-49_7030-46del
XM_006721926.2:c.7093-49_7093-46del	XP_006721989.1:n.7093-49_7093-46del
XM_006721927.1:c.7093-49_7093-46del	XP_006721990.1:n.7093-49_7093-46del
XM_011524852.1:c.7090-49_7090-46del	XP_011523154.1:n.7090-49_7090-46del
XM_011524853.1:c.7054-49_7054-46del	XP_011523155.1:n.7054-49_7054-46del
XM_011524854.1:c.7054-49_7054-46del	XP_011523156.1:n.7054-49_7054-46del
XM_011524855.1:c.7054-49_7054-46del	XP_011523157.1:n.7054-49_7054-46del
XM_011524856.1:c.7054-49_7054-46del	XP_011523158.1:n.7054-49_7054-46del
XM_011524857.1:c.7093-49_7093-46del	XP_011523159.1:n.7093-49_7093-46del
NM_001042492.3:c.7063-49_7063-46del MANE Select	NP_001035957.1:n.7063-49_7063-46del