Canonical Allele Identifier: CA2255603223

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338884_31338889delinsAATAAG , CM000679.2:g.31338884_31338889delinsAATAAG	GRCh38
NC_000017.10:g.29665902_29665907delinsAATAAG , CM000679.1:g.29665902_29665907delinsAATAAG	GRCh37
NC_000017.9:g.26690028_26690033delinsAATAAG	NCBI36
NG_009018.1:g.248908_248913delinsAATAAG , LRG_214:g.248908_248913delinsAATAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6903+79_6903+84delinsAATAAG	ENSP00000512431.1:n.6903+79_6903+84delinsAATAAG
ENST00000684826.1:c.1485+79_1485+84delinsAATAAG	ENSP00000509994.1:n.1485+79_1485+84delinsAATAAG
ENST00000684998.1:n.2822_2827delinsAATAAG
ENST00000687027.1:c.1077+79_1077+84delinsAATAAG	ENSP00000508715.1:n.1077+79_1077+84delinsAATAAG
ENST00000687863.1:n.3566+79_3566+84delinsAATAAG
ENST00000691014.1:c.6951+79_6951+84delinsAATAAG	ENSP00000510595.1:n.6951+79_6951+84delinsAATAAG
ENST00000693617.1:c.1485+79_1485+84delinsAATAAG	ENSP00000510031.1:n.1485+79_1485+84delinsAATAAG
ENST00000358273.9:c.6921+79_6921+84delinsAATAAG MANE Select	ENSP00000351015.4:n.6921+79_6921+84delinsAATAAG
ENST00000356175.7:c.6858+79_6858+84delinsAATAAG	ENSP00000348498.3:n.6858+79_6858+84delinsAATAAG
ENST00000358273.8:c.6921+79_6921+84delinsAATAAG	ENSP00000351015.4:n.6921+79_6921+84delinsAATAAG
ENST00000456735.6:c.5856+79_5856+84delinsAATAAG	ENSP00000389907.2:n.5856+79_5856+84delinsAATAAG
ENST00000471572.6:c.304+79_304+84delinsAATAAG
ENST00000579081.5:c.7057+79_7057+84delinsAATAAG	ENSP00000462408.1:n.7057+79_7057+84delinsAATAAG
ENST00000581790.5:c.64+1004_64+1009delinsAATAAG
ENST00000584328.1:n.335+79_335+84delinsAATAAG
NM_000267.3:c.6858+79_6858+84delinsAATAAG , LRG_214t1:c.6858+79_6858+84delinsAATAAG	NP_000258.1:n.6858+79_6858+84delinsAATAAG
NM_001042492.2:c.6921+79_6921+84delinsAATAAG , LRG_214t2:c.6921+79_6921+84delinsAATAAG	NP_001035957.1:n.6921+79_6921+84delinsAATAAG
XM_005257983.1:c.6921+79_6921+84delinsAATAAG	XP_005258040.1:n.6921+79_6921+84delinsAATAAG
XM_005257984.1:c.6858+79_6858+84delinsAATAAG	XP_005258041.1:n.6858+79_6858+84delinsAATAAG
XM_006721922.1:c.6951+79_6951+84delinsAATAAG	XP_006721985.1:n.6951+79_6951+84delinsAATAAG
XM_006721923.2:c.6912+79_6912+84delinsAATAAG	XP_006721986.1:n.6912+79_6912+84delinsAATAAG
XM_006721924.1:c.6951+79_6951+84delinsAATAAG	XP_006721987.1:n.6951+79_6951+84delinsAATAAG
XM_006721925.1:c.6888+79_6888+84delinsAATAAG	XP_006721988.1:n.6888+79_6888+84delinsAATAAG
XM_006721926.2:c.6951+79_6951+84delinsAATAAG	XP_006721989.1:n.6951+79_6951+84delinsAATAAG
XM_006721927.1:c.6951+79_6951+84delinsAATAAG	XP_006721990.1:n.6951+79_6951+84delinsAATAAG
XM_011524852.1:c.6948+79_6948+84delinsAATAAG	XP_011523154.1:n.6948+79_6948+84delinsAATAAG
XM_011524853.1:c.6912+79_6912+84delinsAATAAG	XP_011523155.1:n.6912+79_6912+84delinsAATAAG
XM_011524854.1:c.6912+79_6912+84delinsAATAAG	XP_011523156.1:n.6912+79_6912+84delinsAATAAG
XM_011524855.1:c.6912+79_6912+84delinsAATAAG	XP_011523157.1:n.6912+79_6912+84delinsAATAAG
XM_011524856.1:c.6912+79_6912+84delinsAATAAG	XP_011523158.1:n.6912+79_6912+84delinsAATAAG
XM_011524857.1:c.6951+79_6951+84delinsAATAAG	XP_011523159.1:n.6951+79_6951+84delinsAATAAG
NM_001042492.3:c.6921+79_6921+84delinsAATAAG MANE Select	NP_001035957.1:n.6921+79_6921+84delinsAATAAG