Canonical Allele Identifier: CA2637079128

Gene: NF1

Linked Data

• gnomAD v4: 17-31338840-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338842_31338843del , CM000679.2:g.31338842_31338843del	GRCh38
NC_000017.10:g.29665860_29665861del , CM000679.1:g.29665860_29665861del	GRCh37
NC_000017.9:g.26689986_26689987del	NCBI36
NG_009018.1:g.248866_248867del , LRG_214:g.248866_248867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6903+37_6903+38del	ENSP00000512431.1:n.6903+37_6903+38del
ENST00000684826.1:c.1485+37_1485+38del	ENSP00000509994.1:n.1485+37_1485+38del
ENST00000684998.1:n.2780_2781del
ENST00000687027.1:c.1077+37_1077+38del	ENSP00000508715.1:n.1077+37_1077+38del
ENST00000687863.1:n.3566+37_3566+38del
ENST00000691014.1:c.6951+37_6951+38del	ENSP00000510595.1:n.6951+37_6951+38del
ENST00000693617.1:c.1485+37_1485+38del	ENSP00000510031.1:n.1485+37_1485+38del
ENST00000358273.9:c.6921+37_6921+38del MANE Select	ENSP00000351015.4:n.6921+37_6921+38del
ENST00000356175.7:c.6858+37_6858+38del	ENSP00000348498.3:n.6858+37_6858+38del
ENST00000358273.8:c.6921+37_6921+38del	ENSP00000351015.4:n.6921+37_6921+38del
ENST00000456735.6:c.5856+37_5856+38del	ENSP00000389907.2:n.5856+37_5856+38del
ENST00000471572.6:c.304+37_304+38del
ENST00000579081.5:c.7057+37_7057+38del	ENSP00000462408.1:n.7057+37_7057+38del
ENST00000581790.5:c.64+962_64+963del
ENST00000584328.1:n.335+37_335+38del
NM_000267.3:c.6858+37_6858+38del , LRG_214t1:c.6858+37_6858+38del	NP_000258.1:n.6858+37_6858+38del
NM_001042492.2:c.6921+37_6921+38del , LRG_214t2:c.6921+37_6921+38del	NP_001035957.1:n.6921+37_6921+38del
XM_005257983.1:c.6921+37_6921+38del	XP_005258040.1:n.6921+37_6921+38del
XM_005257984.1:c.6858+37_6858+38del	XP_005258041.1:n.6858+37_6858+38del
XM_006721922.1:c.6951+37_6951+38del	XP_006721985.1:n.6951+37_6951+38del
XM_006721923.2:c.6912+37_6912+38del	XP_006721986.1:n.6912+37_6912+38del
XM_006721924.1:c.6951+37_6951+38del	XP_006721987.1:n.6951+37_6951+38del
XM_006721925.1:c.6888+37_6888+38del	XP_006721988.1:n.6888+37_6888+38del
XM_006721926.2:c.6951+37_6951+38del	XP_006721989.1:n.6951+37_6951+38del
XM_006721927.1:c.6951+37_6951+38del	XP_006721990.1:n.6951+37_6951+38del
XM_011524852.1:c.6948+37_6948+38del	XP_011523154.1:n.6948+37_6948+38del
XM_011524853.1:c.6912+37_6912+38del	XP_011523155.1:n.6912+37_6912+38del
XM_011524854.1:c.6912+37_6912+38del	XP_011523156.1:n.6912+37_6912+38del
XM_011524855.1:c.6912+37_6912+38del	XP_011523157.1:n.6912+37_6912+38del
XM_011524856.1:c.6912+37_6912+38del	XP_011523158.1:n.6912+37_6912+38del
XM_011524857.1:c.6951+37_6951+38del	XP_011523159.1:n.6951+37_6951+38del
NM_001042492.3:c.6921+37_6921+38del MANE Select	NP_001035957.1:n.6921+37_6921+38del