Canonical Allele Identifier: CA625469012

Gene: NF1

Linked Data

• dbSNP Id: rs1218834848
• gnomAD v2: 17-29549006-TGAAATATTAACTCTGTA-T
• MyVariant Identifiers: chr17:g.29549007_29549023del (hg19) ; chr17:g.31221989_31222005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31221990_31222006del , CM000679.2:g.31221990_31222006del	GRCh38
NC_000017.10:g.29549008_29549024del , CM000679.1:g.29549008_29549024del	GRCh37
NC_000017.9:g.26573134_26573150del	NCBI36
NG_009018.1:g.132014_132030del , LRG_214:g.132014_132030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1766+61_1766+77del	ENSP00000512431.1:n.1766+61_1766+77del
ENST00000686189.1:c.1227_1243del	ENSP00000509682.1:n.[c.1227_1243del;Ter409CysextTer3]
ENST00000691014.1:c.1751+61_1751+77del	ENSP00000510595.1:n.1751+61_1751+77del
ENST00000358273.9:c.1721+61_1721+77del MANE Select	ENSP00000351015.4:n.1721+61_1721+77del
ENST00000356175.7:c.1721+61_1721+77del	ENSP00000348498.3:n.1721+61_1721+77del
ENST00000358273.8:c.1721+61_1721+77del	ENSP00000351015.4:n.1721+61_1721+77del
ENST00000431387.8:c.1782_*16del	ENSP00000412921.4:n.[c.1782_*16del;Ter594CysextTer3]
ENST00000456735.6:c.719+61_719+77del	ENSP00000389907.2:n.719+61_719+77del
ENST00000495910.6:c.1496+61_1496+77del
ENST00000579081.5:c.1823+61_1823+77del	ENSP00000462408.1:n.1823+61_1823+77del
NM_000267.3:c.1721+61_1721+77del , LRG_214t1:c.1721+61_1721+77del	NP_000258.1:n.1721+61_1721+77del
NM_001042492.2:c.1721+61_1721+77del , LRG_214t2:c.1721+61_1721+77del	NP_001035957.1:n.1721+61_1721+77del
NM_001128147.2:c.1782_*16del	NP_001121619.1:n.[c.1782_*16del;Ter594CysextTer3]
XM_005257983.1:c.1721+61_1721+77del	XP_005258040.1:n.1721+61_1721+77del
XM_005257984.1:c.1721+61_1721+77del	XP_005258041.1:n.1721+61_1721+77del
XM_006721922.1:c.1751+61_1751+77del	XP_006721985.1:n.1751+61_1751+77del
XM_006721923.2:c.1712+61_1712+77del	XP_006721986.1:n.1712+61_1712+77del
XM_006721924.1:c.1751+61_1751+77del	XP_006721987.1:n.1751+61_1751+77del
XM_006721925.1:c.1751+61_1751+77del	XP_006721988.1:n.1751+61_1751+77del
XM_006721926.2:c.1751+61_1751+77del	XP_006721989.1:n.1751+61_1751+77del
XM_006721927.1:c.1751+61_1751+77del	XP_006721990.1:n.1751+61_1751+77del
XM_006721928.2:c.1751+61_1751+77del	XP_006721991.1:n.1751+61_1751+77del
XM_011524852.1:c.1751+61_1751+77del	XP_011523154.1:n.1751+61_1751+77del
XM_011524853.1:c.1712+61_1712+77del	XP_011523155.1:n.1712+61_1712+77del
XM_011524854.1:c.1712+61_1712+77del	XP_011523156.1:n.1712+61_1712+77del
XM_011524855.1:c.1712+61_1712+77del	XP_011523157.1:n.1712+61_1712+77del
XM_011524856.1:c.1712+61_1712+77del	XP_011523158.1:n.1712+61_1712+77del
XM_011524857.1:c.1751+61_1751+77del	XP_011523159.1:n.1751+61_1751+77del
NM_001042492.3:c.1721+61_1721+77del MANE Select	NP_001035957.1:n.1721+61_1721+77del
NM_001128147.3:c.1782_*16del	NP_001121619.1:n.[c.1782_*16del;Ter594CysextTer3]