Canonical Allele Identifier: CA728036300

Gene: NF1

Linked Data

• dbSNP Id: rs1277168079
• MyVariant Identifiers: chr17:g.29560194_29560195insTA (hg19) ; chr17:g.31233176_31233177insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233176_31233177insTA , CM000679.2:g.31233176_31233177insTA	GRCh38
NC_000017.10:g.29560194_29560195insTA , CM000679.1:g.29560194_29560195insTA	GRCh37
NC_000017.9:g.26584320_26584321insTA	NCBI36
NG_009018.1:g.143200_143201insTA , LRG_214:g.143200_143201insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3716_3717insTA	ENSP00000512431.1:p.Met1240ArgfsTer16
ENST00000696139.1:c.1016_1017insTA	ENSP00000512432.1:p.Met340ArgfsTer16
ENST00000691014.1:c.3701_3702insTA	ENSP00000510595.1:p.Met1235ArgfsTer16
ENST00000693210.1:n.397_398insTA
ENST00000358273.9:c.3671_3672insTA MANE Select	ENSP00000351015.4:p.Met1225ArgfsTer16
ENST00000356175.7:c.3671_3672insTA	ENSP00000348498.3:p.Met1225ArgfsTer16
ENST00000358273.8:c.3671_3672insTA	ENSP00000351015.4:p.Met1225ArgfsTer16
ENST00000456735.6:c.2669_2670insTA	ENSP00000389907.2:p.Met891ArgfsTer16
ENST00000466819.5:c.147_148insTA
ENST00000479614.1:c.147_148insTA
ENST00000493220.5:n.2207_2208insTA
ENST00000495910.6:c.3446_3447insTA
ENST00000579081.5:c.3773_3774insTA	ENSP00000462408.1:p.Met1259ArgfsTer16
NM_000267.3:c.3671_3672insTA , LRG_214t1:c.3671_3672insTA	NP_000258.1:p.Met1225ArgfsTer16
NM_001042492.2:c.3671_3672insTA , LRG_214t2:c.3671_3672insTA	NP_001035957.1:p.Met1225ArgfsTer16
XM_005257983.1:c.3671_3672insTA	XP_005258040.1:p.Met1225ArgfsTer16
XM_005257984.1:c.3671_3672insTA	XP_005258041.1:p.Met1225ArgfsTer16
XM_006721922.1:c.3701_3702insTA	XP_006721985.1:p.Met1235ArgfsTer16
XM_006721923.2:c.3662_3663insTA	XP_006721986.1:p.Met1222ArgfsTer16
XM_006721924.1:c.3701_3702insTA	XP_006721987.1:p.Met1235ArgfsTer16
XM_006721925.1:c.3701_3702insTA	XP_006721988.1:p.Met1235ArgfsTer16
XM_006721926.2:c.3701_3702insTA	XP_006721989.1:p.Met1235ArgfsTer16
XM_006721927.1:c.3701_3702insTA	XP_006721990.1:p.Met1235ArgfsTer16
XM_006721928.2:c.3701_3702insTA	XP_006721991.1:p.Met1235ArgfsTer16
XM_011524852.1:c.3698_3699insTA	XP_011523154.1:p.Met1234ArgfsTer16
XM_011524853.1:c.3662_3663insTA	XP_011523155.1:p.Met1222ArgfsTer16
XM_011524854.1:c.3662_3663insTA	XP_011523156.1:p.Met1222ArgfsTer16
XM_011524855.1:c.3662_3663insTA	XP_011523157.1:p.Met1222ArgfsTer16
XM_011524856.1:c.3662_3663insTA	XP_011523158.1:p.Met1222ArgfsTer16
XM_011524857.1:c.3701_3702insTA	XP_011523159.1:p.Met1235ArgfsTer16
NM_001042492.3:c.3671_3672insTA MANE Select	NP_001035957.1:p.Met1225ArgfsTer16