Canonical Allele Identifier: CA2695225445

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343041_31343042insG , CM000679.2:g.31343041_31343042insG	GRCh38
NC_000017.10:g.29670059_29670060insG , CM000679.1:g.29670059_29670060insG	GRCh37
NC_000017.9:g.26694185_26694186insG	NCBI36
NG_009018.1:g.253065_253066insG , LRG_214:g.253065_253066insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7077_7078insG	ENSP00000512431.1:p.Pro2360AlafsTer20
ENST00000684826.1:c.1659_1660insG	ENSP00000509994.1:p.Pro554AlafsTer20
ENST00000687027.1:c.1251_1252insG	ENSP00000508715.1:p.Pro418AlafsTer20
ENST00000687863.1:n.3740_3741insG
ENST00000689464.1:c.34_35insG
ENST00000691014.1:c.7125_7126insG	ENSP00000510595.1:p.Pro2376AlafsTer20
ENST00000693617.1:c.1659_1660insG	ENSP00000510031.1:p.Pro554AlafsTer20
ENST00000358273.9:c.7095_7096insG MANE Select	ENSP00000351015.4:p.Pro2366AlafsTer20
ENST00000356175.7:c.7032_7033insG	ENSP00000348498.3:p.Pro2345AlafsTer20
ENST00000358273.8:c.7095_7096insG	ENSP00000351015.4:p.Pro2366AlafsTer20
ENST00000456735.6:c.6030_6031insG	ENSP00000389907.2:p.Pro2011AlafsTer20
ENST00000471572.6:c.478_479insG
ENST00000579081.5:c.7231_7232insG	ENSP00000462408.1:n.7231_7232insG
ENST00000581790.5:c.238_239insG
ENST00000582892.1:n.337_338insG
ENST00000584328.1:n.509_510insG
NM_000267.3:c.7032_7033insG , LRG_214t1:c.7032_7033insG	NP_000258.1:p.Pro2345AlafsTer20
NM_001042492.2:c.7095_7096insG , LRG_214t2:c.7095_7096insG	NP_001035957.1:p.Pro2366AlafsTer20
XM_005257983.1:c.7095_7096insG	XP_005258040.1:p.Pro2366AlafsTer20
XM_005257984.1:c.7032_7033insG	XP_005258041.1:p.Pro2345AlafsTer20
XM_006721922.1:c.7125_7126insG	XP_006721985.1:p.Pro2376AlafsTer20
XM_006721923.2:c.7086_7087insG	XP_006721986.1:p.Pro2363AlafsTer20
XM_006721924.1:c.7125_7126insG	XP_006721987.1:p.Pro2376AlafsTer20
XM_006721925.1:c.7062_7063insG	XP_006721988.1:p.Pro2355AlafsTer20
XM_006721926.2:c.7125_7126insG	XP_006721989.1:p.Pro2376AlafsTer20
XM_006721927.1:c.7125_7126insG	XP_006721990.1:p.Pro2376AlafsTer20
XM_011524852.1:c.7122_7123insG	XP_011523154.1:p.Pro2375AlafsTer20
XM_011524853.1:c.7086_7087insG	XP_011523155.1:p.Pro2363AlafsTer20
XM_011524854.1:c.7086_7087insG	XP_011523156.1:p.Pro2363AlafsTer20
XM_011524855.1:c.7086_7087insG	XP_011523157.1:p.Pro2363AlafsTer20
XM_011524856.1:c.7086_7087insG	XP_011523158.1:p.Pro2363AlafsTer20
XM_011524857.1:c.7125_7126insG	XP_011523159.1:p.Pro2376AlafsTer20
NM_001042492.3:c.7095_7096insG MANE Select	NP_001035957.1:p.Pro2366AlafsTer20