Canonical Allele Identifier: CA2637082252

Gene: NF1

Linked Data

• gnomAD v4: 17-31261766-TACCTGGGTCCTCCAGAGCACAAACCTGTGGCAGATAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261769_31261805del , CM000679.2:g.31261769_31261805del	GRCh38
NC_000017.10:g.29588787_29588823del , CM000679.1:g.29588787_29588823del	GRCh37
NC_000017.9:g.26612913_26612949del	NCBI36
NG_009018.1:g.171793_171829del , LRG_214:g.171793_171829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.438_474del	ENSP00000492721.2:p.Trp147LeufsTer5
ENST00000696138.1:c.4618_4654del	ENSP00000512431.1:p.Leu1540ThrfsTer16
ENST00000696140.1:n.742_778del
ENST00000696141.1:c.627_663del
ENST00000687863.1:n.1281_1317del
ENST00000691014.1:c.4666_4702del	ENSP00000510595.1:p.Leu1556ThrfsTer16
ENST00000358273.9:c.4636_4672del MANE Select	ENSP00000351015.4:p.Leu1546ThrfsTer16
ENST00000356175.7:c.4573_4609del	ENSP00000348498.3:p.Leu1525ThrfsTer16
ENST00000358273.8:c.4636_4672del	ENSP00000351015.4:p.Leu1546ThrfsTer16
ENST00000456735.6:c.3571_3607del	ENSP00000389907.2:p.Leu1191ThrfsTer16
ENST00000493220.5:n.3109_3145del
ENST00000579081.5:c.4675_4711del	ENSP00000462408.1:p.Leu1559ThrfsTer16
NM_000267.3:c.4573_4609del , LRG_214t1:c.4573_4609del	NP_000258.1:p.Leu1525ThrfsTer16
NM_001042492.2:c.4636_4672del , LRG_214t2:c.4636_4672del	NP_001035957.1:p.Leu1546ThrfsTer16
XM_005257983.1:c.4636_4672del	XP_005258040.1:p.Leu1546ThrfsTer16
XM_005257984.1:c.4573_4609del	XP_005258041.1:p.Leu1525ThrfsTer16
XM_006721922.1:c.4666_4702del	XP_006721985.1:p.Leu1556ThrfsTer16
XM_006721923.2:c.4627_4663del	XP_006721986.1:p.Leu1543ThrfsTer16
XM_006721924.1:c.4666_4702del	XP_006721987.1:p.Leu1556ThrfsTer16
XM_006721925.1:c.4603_4639del	XP_006721988.1:p.Leu1535ThrfsTer16
XM_006721926.2:c.4666_4702del	XP_006721989.1:p.Leu1556ThrfsTer16
XM_006721927.1:c.4666_4702del	XP_006721990.1:p.Leu1556ThrfsTer16
XM_006721928.2:c.4666_4702del	XP_006721991.1:p.Leu1556ThrfsTer16
XM_011524852.1:c.4663_4699del	XP_011523154.1:p.Leu1555ThrfsTer16
XM_011524853.1:c.4627_4663del	XP_011523155.1:p.Leu1543ThrfsTer16
XM_011524854.1:c.4627_4663del	XP_011523156.1:p.Leu1543ThrfsTer16
XM_011524855.1:c.4627_4663del	XP_011523157.1:p.Leu1543ThrfsTer16
XM_011524856.1:c.4627_4663del	XP_011523158.1:p.Leu1543ThrfsTer16
XM_011524857.1:c.4666_4702del	XP_011523159.1:p.Leu1556ThrfsTer16
NM_001042492.3:c.4636_4672del MANE Select	NP_001035957.1:p.Leu1546ThrfsTer16