Canonical Allele Identifier: CA2573153877

Gene: NF1

Linked Data

• ClinVar Variation Id: 1365791
• ClinVar RCV Id: RCV001961896
• dbSNP Id: rs2151559183

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338736_31338737dup , CM000679.2:g.31338736_31338737dup	GRCh38
NC_000017.10:g.29665754_29665755dup , CM000679.1:g.29665754_29665755dup	GRCh37
NC_000017.9:g.26689880_26689881dup	NCBI36
NG_009018.1:g.248760_248761dup , LRG_214:g.248760_248761dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6834_6835dup	ENSP00000512431.1:p.Tyr2279PhefsTer7
ENST00000684826.1:c.1416_1417dup	ENSP00000509994.1:p.Tyr473PhefsTer7
ENST00000684998.1:n.2674_2675dup
ENST00000687027.1:c.1008_1009dup	ENSP00000508715.1:p.Tyr337PhefsTer7
ENST00000687863.1:n.3497_3498dup
ENST00000691014.1:c.6882_6883dup	ENSP00000510595.1:p.Tyr2295PhefsTer7
ENST00000693617.1:c.1416_1417dup	ENSP00000510031.1:p.Tyr473PhefsTer7
ENST00000358273.9:c.6852_6853dup MANE Select	ENSP00000351015.4:p.Tyr2285PhefsTer7
ENST00000356175.7:c.6789_6790dup	ENSP00000348498.3:p.Tyr2264PhefsTer7
ENST00000358273.8:c.6852_6853dup	ENSP00000351015.4:p.Tyr2285PhefsTer7
ENST00000456735.6:c.5787_5788dup	ENSP00000389907.2:p.Tyr1930PhefsTer7
ENST00000471572.6:c.235_236dup
ENST00000579081.5:c.6988_6989dup	ENSP00000462408.1:n.6988_6989dup
ENST00000581790.5:c.64+856_64+857dup
ENST00000584328.1:n.266_267dup
NM_000267.3:c.6789_6790dup , LRG_214t1:c.6789_6790dup	NP_000258.1:p.Tyr2264PhefsTer7
NM_001042492.2:c.6852_6853dup , LRG_214t2:c.6852_6853dup	NP_001035957.1:p.Tyr2285PhefsTer7
XM_005257983.1:c.6852_6853dup	XP_005258040.1:p.Tyr2285PhefsTer7
XM_005257984.1:c.6789_6790dup	XP_005258041.1:p.Tyr2264PhefsTer7
XM_006721922.1:c.6882_6883dup	XP_006721985.1:p.Tyr2295PhefsTer7
XM_006721923.2:c.6843_6844dup	XP_006721986.1:p.Tyr2282PhefsTer7
XM_006721924.1:c.6882_6883dup	XP_006721987.1:p.Tyr2295PhefsTer7
XM_006721925.1:c.6819_6820dup	XP_006721988.1:p.Tyr2274PhefsTer7
XM_006721926.2:c.6882_6883dup	XP_006721989.1:p.Tyr2295PhefsTer7
XM_006721927.1:c.6882_6883dup	XP_006721990.1:p.Tyr2295PhefsTer7
XM_011524852.1:c.6879_6880dup	XP_011523154.1:p.Tyr2294PhefsTer7
XM_011524853.1:c.6843_6844dup	XP_011523155.1:p.Tyr2282PhefsTer7
XM_011524854.1:c.6843_6844dup	XP_011523156.1:p.Tyr2282PhefsTer7
XM_011524855.1:c.6843_6844dup	XP_011523157.1:p.Tyr2282PhefsTer7
XM_011524856.1:c.6843_6844dup	XP_011523158.1:p.Tyr2282PhefsTer7
XM_011524857.1:c.6882_6883dup	XP_011523159.1:p.Tyr2295PhefsTer7
NM_001042492.3:c.6852_6853dup MANE Select	NP_001035957.1:p.Tyr2285PhefsTer7