Canonical Allele Identifier: CA2637085152

Gene: NF1

Linked Data

• gnomAD v4: 17-31330500-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330502del , CM000679.2:g.31330502del	GRCh38
NC_000017.10:g.29657520del , CM000679.1:g.29657520del	GRCh37
NC_000017.9:g.26681646del	NCBI36
NG_009018.1:g.240526del , LRG_214:g.240526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2000+4del	ENSP00000492721.2:n.2000+4del
ENST00000696138.1:c.5794+4del	ENSP00000512431.1:n.5794+4del
ENST00000684826.1:c.376+4del	ENSP00000509994.1:n.376+4del
ENST00000687027.1:c.-33+4del	ENSP00000508715.1:n.-33+4del
ENST00000687863.1:n.2457+4del
ENST00000691014.1:c.5842+4del	ENSP00000510595.1:n.5842+4del
ENST00000693617.1:c.376+4del	ENSP00000510031.1:n.376+4del
ENST00000358273.9:c.5812+4del MANE Select	ENSP00000351015.4:n.5812+4del
ENST00000356175.7:c.5749+4del	ENSP00000348498.3:n.5749+4del
ENST00000358273.8:c.5812+4del	ENSP00000351015.4:n.5812+4del
ENST00000456735.6:c.4747+4del	ENSP00000389907.2:n.4747+4del
ENST00000479536.2:c.170+4del
ENST00000493220.5:n.4289del
ENST00000579081.5:c.5948+4del	ENSP00000462408.1:n.5948+4del
ENST00000581113.6:n.1129+4del
NM_000267.3:c.5749+4del , LRG_214t1:c.5749+4del	NP_000258.1:n.5749+4del
NM_001042492.2:c.5812+4del , LRG_214t2:c.5812+4del	NP_001035957.1:n.5812+4del
XM_005257983.1:c.5812+4del	XP_005258040.1:n.5812+4del
XM_005257984.1:c.5749+4del	XP_005258041.1:n.5749+4del
XM_006721922.1:c.5842+4del	XP_006721985.1:n.5842+4del
XM_006721923.2:c.5803+4del	XP_006721986.1:n.5803+4del
XM_006721924.1:c.5842+4del	XP_006721987.1:n.5842+4del
XM_006721925.1:c.5779+4del	XP_006721988.1:n.5779+4del
XM_006721926.2:c.5842+4del	XP_006721989.1:n.5842+4del
XM_006721927.1:c.5842+4del	XP_006721990.1:n.5842+4del
XM_011524852.1:c.5839+4del	XP_011523154.1:n.5839+4del
XM_011524853.1:c.5803+4del	XP_011523155.1:n.5803+4del
XM_011524854.1:c.5803+4del	XP_011523156.1:n.5803+4del
XM_011524855.1:c.5803+4del	XP_011523157.1:n.5803+4del
XM_011524856.1:c.5803+4del	XP_011523158.1:n.5803+4del
XM_011524857.1:c.5842+4del	XP_011523159.1:n.5842+4del
NM_001042492.3:c.5812+4del MANE Select	NP_001035957.1:n.5812+4del