Canonical Allele Identifier: CA2739267291

Gene: NF1

Linked Data

• ClinVar Variation Id: 2824536
• ClinVar RCV Id: RCV003599246

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357028_31357032del , CM000679.2:g.31357028_31357032del	GRCh38
NC_000017.10:g.29684046_29684050del , CM000679.1:g.29684046_29684050del	GRCh37
NC_000017.9:g.26708172_26708176del	NCBI36
NG_009018.1:g.267052_267056del , LRG_214:g.267052_267056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7789_7793del	ENSP00000512431.1:p.Val2597LeufsTer3
ENST00000684826.1:c.2371_2375del	ENSP00000509994.1:p.Val791LeufsTer3
ENST00000687027.1:c.1963_1967del	ENSP00000508715.1:p.Val655LeufsTer3
ENST00000687863.1:n.4452_4456del
ENST00000689464.1:c.857_861del
ENST00000691014.1:c.7837_7841del	ENSP00000510595.1:p.Val2613LeufsTer3
ENST00000693617.1:c.2371_2375del	ENSP00000510031.1:p.Val791LeufsTer3
ENST00000358273.9:c.7807_7811del MANE Select	ENSP00000351015.4:p.Val2603LeufsTer3
ENST00000356175.7:c.7744_7748del	ENSP00000348498.3:p.Val2582LeufsTer3
ENST00000358273.8:c.7807_7811del	ENSP00000351015.4:p.Val2603LeufsTer3
ENST00000456735.6:c.6742_6746del	ENSP00000389907.2:p.Val2248LeufsTer3
ENST00000471572.6:c.1190_1194del
ENST00000577967.1:n.1225_1229del
ENST00000579081.5:c.7943_7947del	ENSP00000462408.1:n.7943_7947del
ENST00000581790.5:c.792_796del
NM_000267.3:c.7744_7748del , LRG_214t1:c.7744_7748del	NP_000258.1:p.Val2582LeufsTer3
NM_001042492.2:c.7807_7811del , LRG_214t2:c.7807_7811del	NP_001035957.1:p.Val2603LeufsTer3
XM_005257983.1:c.7807_7811del	XP_005258040.1:p.Val2603LeufsTer3
XM_005257984.1:c.7744_7748del	XP_005258041.1:p.Val2582LeufsTer3
XM_006721922.1:c.7837_7841del	XP_006721985.1:p.Val2613LeufsTer3
XM_006721923.2:c.7798_7802del	XP_006721986.1:p.Val2600LeufsTer3
XM_006721924.1:c.7837_7841del	XP_006721987.1:p.Val2613LeufsTer3
XM_006721925.1:c.7774_7778del	XP_006721988.1:p.Val2592LeufsTer3
XM_006721926.2:c.7837_7841del	XP_006721989.1:p.Val2613LeufsTer3
XM_006721927.1:c.7837_7841del	XP_006721990.1:p.Val2613LeufsTer3
XM_011524852.1:c.7834_7838del	XP_011523154.1:p.Val2612LeufsTer3
XM_011524853.1:c.7798_7802del	XP_011523155.1:p.Val2600LeufsTer3
XM_011524854.1:c.7798_7802del	XP_011523156.1:p.Val2600LeufsTer3
XM_011524855.1:c.7798_7802del	XP_011523157.1:p.Val2600LeufsTer3
XM_011524856.1:c.7798_7802del	XP_011523158.1:p.Val2600LeufsTer3
XM_011524857.1:c.7714_7718del	XP_011523159.1:p.Val2572LeufsTer3
NM_001042492.3:c.7807_7811del MANE Select	NP_001035957.1:p.Val2603LeufsTer3