Canonical Allele Identifier: CA2576223434

Gene: NF1

Linked Data

• ClinVar Variation Id: 2736552
• ClinVar RCV Id: RCV003494728 ; RCV003738484

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265326_31265328del , CM000679.2:g.31265326_31265328del	GRCh38
NC_000017.10:g.29592344_29592346del , CM000679.1:g.29592344_29592346del	GRCh37
NC_000017.9:g.26616470_26616472del	NCBI36
NG_009018.1:g.175350_175352del , LRG_214:g.175350_175352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.624_626del	ENSP00000492721.2:n.624_626del
ENST00000696138.1:c.4804_4806del	ENSP00000512431.1:p.Tyr1602del
ENST00000696140.1:n.928_930del
ENST00000696141.1:c.813_815del
ENST00000687863.1:n.1467_1469del
ENST00000691014.1:c.4852_4854del	ENSP00000510595.1:p.Tyr1618del
ENST00000358273.9:c.4822_4824del MANE Select	ENSP00000351015.4:p.Tyr1608del
ENST00000356175.7:c.4759_4761del	ENSP00000348498.3:p.Tyr1587del
ENST00000358273.8:c.4822_4824del	ENSP00000351015.4:p.Tyr1608del
ENST00000456735.6:c.3757_3759del	ENSP00000389907.2:p.Tyr1253del
ENST00000493220.5:n.3295_3297del
ENST00000579081.5:c.4861_4863del	ENSP00000462408.1:p.Tyr1621del
NM_000267.3:c.4759_4761del , LRG_214t1:c.4759_4761del	NP_000258.1:p.Tyr1587del
NM_001042492.2:c.4822_4824del , LRG_214t2:c.4822_4824del	NP_001035957.1:p.Tyr1608del
XM_005257983.1:c.4822_4824del	XP_005258040.1:p.Tyr1608del
XM_005257984.1:c.4759_4761del	XP_005258041.1:p.Tyr1587del
XM_006721922.1:c.4852_4854del	XP_006721985.1:p.Tyr1618del
XM_006721923.2:c.4813_4815del	XP_006721986.1:p.Tyr1605del
XM_006721924.1:c.4852_4854del	XP_006721987.1:p.Tyr1618del
XM_006721925.1:c.4789_4791del	XP_006721988.1:p.Tyr1597del
XM_006721926.2:c.4852_4854del	XP_006721989.1:p.Tyr1618del
XM_006721927.1:c.4852_4854del	XP_006721990.1:p.Tyr1618del
XM_006721928.2:c.4852_4854del	XP_006721991.1:p.Tyr1618del
XM_011524852.1:c.4849_4851del	XP_011523154.1:p.Tyr1617del
XM_011524853.1:c.4813_4815del	XP_011523155.1:p.Tyr1605del
XM_011524854.1:c.4813_4815del	XP_011523156.1:p.Tyr1605del
XM_011524855.1:c.4813_4815del	XP_011523157.1:p.Tyr1605del
XM_011524856.1:c.4813_4815del	XP_011523158.1:p.Tyr1605del
XM_011524857.1:c.4852_4854del	XP_011523159.1:p.Tyr1618del
NM_001042492.3:c.4822_4824del MANE Select	NP_001035957.1:p.Tyr1608del