Canonical Allele Identifier: CA2733524201

Gene: NF1

Linked Data

• dbSNP Id: rs2143958391

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214443_31214446del , CM000679.2:g.31214443_31214446del	GRCh38
NC_000017.10:g.29541461_29541464del , CM000679.1:g.29541461_29541464del	GRCh37
NC_000017.9:g.26565587_26565590del	NCBI36
NG_009018.1:g.124467_124470del , LRG_214:g.124467_124470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1438-8_1438-5del	ENSP00000512431.1:n.1438-8_1438-5del
ENST00000686189.1:c.838-8_838-5del	ENSP00000509682.1:n.838-8_838-5del
ENST00000691014.1:c.1423-8_1423-5del	ENSP00000510595.1:n.1423-8_1423-5del
ENST00000358273.9:c.1393-8_1393-5del MANE Select	ENSP00000351015.4:n.1393-8_1393-5del
ENST00000356175.7:c.1393-8_1393-5del	ENSP00000348498.3:n.1393-8_1393-5del
ENST00000358273.8:c.1393-8_1393-5del	ENSP00000351015.4:n.1393-8_1393-5del
ENST00000431387.8:c.1393-8_1393-5del	ENSP00000412921.4:n.1393-8_1393-5del
ENST00000456735.6:c.391-8_391-5del	ENSP00000389907.2:n.391-8_391-5del
ENST00000487476.5:n.1776-8_1776-5del
ENST00000495910.6:c.1168-8_1168-5del
ENST00000579081.5:c.1495-8_1495-5del	ENSP00000462408.1:n.1495-8_1495-5del
NM_000267.3:c.1393-8_1393-5del , LRG_214t1:c.1393-8_1393-5del	NP_000258.1:n.1393-8_1393-5del
NM_001042492.2:c.1393-8_1393-5del , LRG_214t2:c.1393-8_1393-5del	NP_001035957.1:n.1393-8_1393-5del
NM_001128147.2:c.1393-8_1393-5del	NP_001121619.1:n.1393-8_1393-5del
XM_005257983.1:c.1393-8_1393-5del	XP_005258040.1:n.1393-8_1393-5del
XM_005257984.1:c.1393-8_1393-5del	XP_005258041.1:n.1393-8_1393-5del
XM_006721922.1:c.1423-8_1423-5del	XP_006721985.1:n.1423-8_1423-5del
XM_006721923.2:c.1384-8_1384-5del	XP_006721986.1:n.1384-8_1384-5del
XM_006721924.1:c.1423-8_1423-5del	XP_006721987.1:n.1423-8_1423-5del
XM_006721925.1:c.1423-8_1423-5del	XP_006721988.1:n.1423-8_1423-5del
XM_006721926.2:c.1423-8_1423-5del	XP_006721989.1:n.1423-8_1423-5del
XM_006721927.1:c.1423-8_1423-5del	XP_006721990.1:n.1423-8_1423-5del
XM_006721928.2:c.1423-8_1423-5del	XP_006721991.1:n.1423-8_1423-5del
XM_011524852.1:c.1423-8_1423-5del	XP_011523154.1:n.1423-8_1423-5del
XM_011524853.1:c.1384-8_1384-5del	XP_011523155.1:n.1384-8_1384-5del
XM_011524854.1:c.1384-8_1384-5del	XP_011523156.1:n.1384-8_1384-5del
XM_011524855.1:c.1384-8_1384-5del	XP_011523157.1:n.1384-8_1384-5del
XM_011524856.1:c.1384-8_1384-5del	XP_011523158.1:n.1384-8_1384-5del
XM_011524857.1:c.1423-8_1423-5del	XP_011523159.1:n.1423-8_1423-5del
NM_001042492.3:c.1393-8_1393-5del MANE Select	NP_001035957.1:n.1393-8_1393-5del
NM_001128147.3:c.1393-8_1393-5del	NP_001121619.1:n.1393-8_1393-5del