Canonical Allele Identifier: CA16615590
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31356545del , CM000679.2:g.31356545del GRCh38
NC_000017.10:g.29683563del , CM000679.1:g.29683563del GRCh37
NC_000017.9:g.26707689del NCBI36
NG_009018.1:g.266569del , LRG_214:g.266569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7683del ENSP00000512431.1:p.Met2563Ter
ENST00000684826.1:c.2265del ENSP00000509994.1:p.Met757Ter
ENST00000687027.1:c.1857del ENSP00000508715.1:p.Met621Ter
ENST00000687863.1:n.4346del
ENST00000689464.1:c.751del
ENST00000691014.1:c.7731del ENSP00000510595.1:p.Met2579Ter
ENST00000693617.1:c.2265del ENSP00000510031.1:p.Met757Ter
ENST00000358273.9:c.7701del MANE Select ENSP00000351015.4:p.Met2569Ter
ENST00000356175.7:c.7638del ENSP00000348498.3:p.Met2548Ter
ENST00000358273.8:c.7701del ENSP00000351015.4:p.Met2569Ter
ENST00000456735.6:c.6636del ENSP00000389907.2:p.Met2214Ter
ENST00000471572.6:c.1084del
ENST00000577967.1:n.742del
ENST00000579081.5:c.7837del ENSP00000462408.1:n.7837del
ENST00000581790.5:c.686del
NM_000267.3:c.7638del , LRG_214t1:c.7638del NP_000258.1:p.Met2548Ter
NM_001042492.2:c.7701del , LRG_214t2:c.7701del NP_001035957.1:p.Met2569Ter
XM_005257983.1:c.7701del XP_005258040.1:p.Met2569Ter
XM_005257984.1:c.7638del XP_005258041.1:p.Met2548Ter
XM_006721922.1:c.7731del XP_006721985.1:p.Met2579Ter
XM_006721923.2:c.7692del XP_006721986.1:p.Met2566Ter
XM_006721924.1:c.7731del XP_006721987.1:p.Met2579Ter
XM_006721925.1:c.7668del XP_006721988.1:p.Met2558Ter
XM_006721926.2:c.7731del XP_006721989.1:p.Met2579Ter
XM_006721927.1:c.7731del XP_006721990.1:p.Met2579Ter
XM_011524852.1:c.7728del XP_011523154.1:p.Met2578Ter
XM_011524853.1:c.7692del XP_011523155.1:p.Met2566Ter
XM_011524854.1:c.7692del XP_011523156.1:p.Met2566Ter
XM_011524855.1:c.7692del XP_011523157.1:p.Met2566Ter
XM_011524856.1:c.7692del XP_011523158.1:p.Met2566Ter
XM_011524857.1:c.7646-415del XP_011523159.1:n.7646-415del
NM_001042492.3:c.7701del MANE Select NP_001035957.1:p.Met2569Ter