Canonical Allele Identifier: CA2255559590

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31221988_31222005delinsTGAAATATTAACTCTGTA , CM000679.2:g.31221988_31222005delinsTGAAATATTAACTCTGTA	GRCh38
NC_000017.10:g.29549006_29549023delinsTGAAATATTAACTCTGTA , CM000679.1:g.29549006_29549023delinsTGAAATATTAACTCTGTA	GRCh37
NC_000017.9:g.26573132_26573149delinsTGAAATATTAACTCTGTA	NCBI36
NG_009018.1:g.132012_132029delinsTGAAATATTAACTCTGTA , LRG_214:g.132012_132029delinsTGAAATATTAACTCTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1766+59_1766+76delinsTGAAATATTAACTCTGTA	ENSP00000512431.1:n.1766+59_1766+76delinsTGAAATATTAACTCTGTA
ENST00000686189.1:c.1225_1242delinsTGAAATATTAACTCTGTA	ENSP00000509682.1:n.[c.1225_1242delinsTGAAATATTAACTCTGTA;Ter4...
ENST00000691014.1:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	ENSP00000510595.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
ENST00000358273.9:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA MANE Select	ENSP00000351015.4:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
ENST00000356175.7:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA	ENSP00000348498.3:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
ENST00000358273.8:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA	ENSP00000351015.4:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
ENST00000431387.8:c.1780_*15delinsTGAAATATTAACTCTGTA	ENSP00000412921.4:n.[c.1780_*15delinsTGAAATATTAACTCTGTA;Ter59...
ENST00000456735.6:c.719+59_719+76delinsTGAAATATTAACTCTGTA	ENSP00000389907.2:n.719+59_719+76delinsTGAAATATTAACTCTGTA
ENST00000495910.6:c.1496+59_1496+76delinsTGAAATATTAACTCTGTA
ENST00000579081.5:c.1823+59_1823+76delinsTGAAATATTAACTCTGTA	ENSP00000462408.1:n.1823+59_1823+76delinsTGAAATATTAACTCTGTA
NM_000267.3:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA , LRG_214t1:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA	NP_000258.1:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
NM_001042492.2:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA , LRG_214t2:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA	NP_001035957.1:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
NM_001128147.2:c.1780_*15delinsTGAAATATTAACTCTGTA	NP_001121619.1:n.[c.1780_*15delinsTGAAATATTAACTCTGTA;Ter594=]...
XM_005257983.1:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA	XP_005258040.1:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
XM_005257984.1:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA	XP_005258041.1:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
XM_006721922.1:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_006721985.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
XM_006721923.2:c.1712+59_1712+76delinsTGAAATATTAACTCTGTA	XP_006721986.1:n.1712+59_1712+76delinsTGAAATATTAACTCTGTA
XM_006721924.1:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_006721987.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
XM_006721925.1:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_006721988.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
XM_006721926.2:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_006721989.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
XM_006721927.1:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_006721990.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
XM_006721928.2:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_006721991.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
XM_011524852.1:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_011523154.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
XM_011524853.1:c.1712+59_1712+76delinsTGAAATATTAACTCTGTA	XP_011523155.1:n.1712+59_1712+76delinsTGAAATATTAACTCTGTA
XM_011524854.1:c.1712+59_1712+76delinsTGAAATATTAACTCTGTA	XP_011523156.1:n.1712+59_1712+76delinsTGAAATATTAACTCTGTA
XM_011524855.1:c.1712+59_1712+76delinsTGAAATATTAACTCTGTA	XP_011523157.1:n.1712+59_1712+76delinsTGAAATATTAACTCTGTA
XM_011524856.1:c.1712+59_1712+76delinsTGAAATATTAACTCTGTA	XP_011523158.1:n.1712+59_1712+76delinsTGAAATATTAACTCTGTA
XM_011524857.1:c.1751+59_1751+76delinsTGAAATATTAACTCTGTA	XP_011523159.1:n.1751+59_1751+76delinsTGAAATATTAACTCTGTA
NM_001042492.3:c.1721+59_1721+76delinsTGAAATATTAACTCTGTA MANE Select	NP_001035957.1:n.1721+59_1721+76delinsTGAAATATTAACTCTGTA
NM_001128147.3:c.1780_*15delinsTGAAATATTAACTCTGTA	NP_001121619.1:n.[c.1780_*15delinsTGAAATATTAACTCTGTA;Ter594=]...