Canonical Allele Identifier: CA8486471

Gene: NF1

Linked Data

• dbSNP Id: rs761021019
• ExAC: 17:29592259 TGAAAAA / T
• gnomAD v2: 17-29592259-TGAAAAA-T
• MyVariant Identifiers: chr17:g.29592260_29592265del (hg19) ; chr17:g.31265242_31265247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265245_31265250del , CM000679.2:g.31265245_31265250del	GRCh38
NC_000017.10:g.29592263_29592268del , CM000679.1:g.29592263_29592268del	GRCh37
NC_000017.9:g.26616389_26616394del	NCBI36
NG_009018.1:g.175269_175274del , LRG_214:g.175269_175274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.543_548del	ENSP00000492721.2:n.543_548del
ENST00000696138.1:c.4723_4728del	ENSP00000512431.1:p.Lys1575_Glu1576del
ENST00000696140.1:n.847_852del
ENST00000696141.1:c.732_737del
ENST00000687863.1:n.1386_1391del
ENST00000691014.1:c.4771_4776del	ENSP00000510595.1:p.Lys1591_Glu1592del
ENST00000358273.9:c.4741_4746del MANE Select	ENSP00000351015.4:p.Lys1581_Glu1582del
ENST00000356175.7:c.4678_4683del	ENSP00000348498.3:p.Lys1560_Glu1561del
ENST00000358273.8:c.4741_4746del	ENSP00000351015.4:p.Lys1581_Glu1582del
ENST00000456735.6:c.3676_3681del	ENSP00000389907.2:p.Lys1226_Glu1227del
ENST00000493220.5:n.3214_3219del
ENST00000579081.5:c.4780_4785del	ENSP00000462408.1:p.Lys1594_Glu1595del
NM_000267.3:c.4678_4683del , LRG_214t1:c.4678_4683del	NP_000258.1:p.Lys1560_Glu1561del
NM_001042492.2:c.4741_4746del , LRG_214t2:c.4741_4746del	NP_001035957.1:p.Lys1581_Glu1582del
XM_005257983.1:c.4741_4746del	XP_005258040.1:p.Lys1581_Glu1582del
XM_005257984.1:c.4678_4683del	XP_005258041.1:p.Lys1560_Glu1561del
XM_006721922.1:c.4771_4776del	XP_006721985.1:p.Lys1591_Glu1592del
XM_006721923.2:c.4732_4737del	XP_006721986.1:p.Lys1578_Glu1579del
XM_006721924.1:c.4771_4776del	XP_006721987.1:p.Lys1591_Glu1592del
XM_006721925.1:c.4708_4713del	XP_006721988.1:p.Lys1570_Glu1571del
XM_006721926.2:c.4771_4776del	XP_006721989.1:p.Lys1591_Glu1592del
XM_006721927.1:c.4771_4776del	XP_006721990.1:p.Lys1591_Glu1592del
XM_006721928.2:c.4771_4776del	XP_006721991.1:p.Lys1591_Glu1592del
XM_011524852.1:c.4768_4773del	XP_011523154.1:p.Lys1590_Glu1591del
XM_011524853.1:c.4732_4737del	XP_011523155.1:p.Lys1578_Glu1579del
XM_011524854.1:c.4732_4737del	XP_011523156.1:p.Lys1578_Glu1579del
XM_011524855.1:c.4732_4737del	XP_011523157.1:p.Lys1578_Glu1579del
XM_011524856.1:c.4732_4737del	XP_011523158.1:p.Lys1578_Glu1579del
XM_011524857.1:c.4771_4776del	XP_011523159.1:p.Lys1591_Glu1592del
NM_001042492.3:c.4741_4746del MANE Select	NP_001035957.1:p.Lys1581_Glu1582del