Canonical Allele Identifier: CA2637076902

Gene: NF1

Linked Data

• gnomAD v4: 17-31248966-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248970_31248971del , CM000679.2:g.31248970_31248971del	GRCh38
NC_000017.10:g.29575988_29575989del , CM000679.1:g.29575988_29575989del	GRCh37
NC_000017.9:g.26600114_26600115del	NCBI36
NG_009018.1:g.158994_158995del , LRG_214:g.158994_158995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4020-14_4020-13del	ENSP00000512431.1:n.4020-14_4020-13del
ENST00000696139.1:c.1438-14_1438-13del	ENSP00000512432.1:n.1438-14_1438-13del
ENST00000696140.1:n.81-14_81-13del
ENST00000687863.1:n.683-14_683-13del
ENST00000691014.1:c.4005-14_4005-13del	ENSP00000510595.1:n.4005-14_4005-13del
ENST00000358273.9:c.3975-14_3975-13del MANE Select	ENSP00000351015.4:n.3975-14_3975-13del
ENST00000356175.7:c.3975-14_3975-13del	ENSP00000348498.3:n.3975-14_3975-13del
ENST00000358273.8:c.3975-14_3975-13del	ENSP00000351015.4:n.3975-14_3975-13del
ENST00000456735.6:c.2973-14_2973-13del	ENSP00000389907.2:n.2973-14_2973-13del
ENST00000466819.5:c.451-14_451-13del
ENST00000479614.1:c.451-14_451-13del
ENST00000493220.5:n.2511-14_2511-13del
ENST00000495910.6:c.3750-14_3750-13del
ENST00000579081.5:c.4077-14_4077-13del	ENSP00000462408.1:n.4077-14_4077-13del
NM_000267.3:c.3975-14_3975-13del , LRG_214t1:c.3975-14_3975-13del	NP_000258.1:n.3975-14_3975-13del
NM_001042492.2:c.3975-14_3975-13del , LRG_214t2:c.3975-14_3975-13del	NP_001035957.1:n.3975-14_3975-13del
XM_005257983.1:c.3975-14_3975-13del	XP_005258040.1:n.3975-14_3975-13del
XM_005257984.1:c.3975-14_3975-13del	XP_005258041.1:n.3975-14_3975-13del
XM_006721922.1:c.4005-14_4005-13del	XP_006721985.1:n.4005-14_4005-13del
XM_006721923.2:c.3966-14_3966-13del	XP_006721986.1:n.3966-14_3966-13del
XM_006721924.1:c.4005-14_4005-13del	XP_006721987.1:n.4005-14_4005-13del
XM_006721925.1:c.4005-14_4005-13del	XP_006721988.1:n.4005-14_4005-13del
XM_006721926.2:c.4005-14_4005-13del	XP_006721989.1:n.4005-14_4005-13del
XM_006721927.1:c.4005-14_4005-13del	XP_006721990.1:n.4005-14_4005-13del
XM_006721928.2:c.4005-14_4005-13del	XP_006721991.1:n.4005-14_4005-13del
XM_011524852.1:c.4002-14_4002-13del	XP_011523154.1:n.4002-14_4002-13del
XM_011524853.1:c.3966-14_3966-13del	XP_011523155.1:n.3966-14_3966-13del
XM_011524854.1:c.3966-14_3966-13del	XP_011523156.1:n.3966-14_3966-13del
XM_011524855.1:c.3966-14_3966-13del	XP_011523157.1:n.3966-14_3966-13del
XM_011524856.1:c.3966-14_3966-13del	XP_011523158.1:n.3966-14_3966-13del
XM_011524857.1:c.4005-14_4005-13del	XP_011523159.1:n.4005-14_4005-13del
NM_001042492.3:c.3975-14_3975-13del MANE Select	NP_001035957.1:n.3975-14_3975-13del