Canonical Allele Identifier: CA625780462

Gene: NF1

Linked Data

• dbSNP Id: rs1166914480
• gnomAD v2: 17-29422215-C-CG
• MyVariant Identifiers: chr17:g.29422215_29422216insG (hg19) ; chr17:g.31095197_31095198insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31095197_31095198insG , CM000679.2:g.31095197_31095198insG	GRCh38
NC_000017.10:g.29422215_29422216insG , CM000679.1:g.29422215_29422216insG	GRCh37
NC_000017.9:g.26446341_26446342insG	NCBI36
NG_009018.1:g.5221_5222insG , LRG_214:g.5221_5222insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.-113_-112insG	ENSP00000512431.1:n.-113_-112insG
ENST00000691014.1:c.-113_-112insG	ENSP00000510595.1:n.-113_-112insG
ENST00000358273.9:c.-113_-112insG MANE Select	ENSP00000351015.4:n.-113_-112insG
ENST00000356175.7:c.-113_-112insG	ENSP00000348498.3:n.-113_-112insG
ENST00000358273.8:c.-113_-112insG	ENSP00000351015.4:n.-113_-112insG
ENST00000431387.8:c.-113_-112insG	ENSP00000412921.4:n.-113_-112insG
ENST00000487476.5:n.271_272insG
NM_000267.3:c.-113_-112insG , LRG_214t1:c.-113_-112insG	NP_000258.1:n.-113_-112insG
NM_001042492.2:c.-113_-112insG , LRG_214t2:c.-113_-112insG	NP_001035957.1:n.-113_-112insG
NM_001128147.2:c.-113_-112insG	NP_001121619.1:n.-113_-112insG
XM_005257983.1:c.-113_-112insG	XP_005258040.1:n.-113_-112insG
XM_005257984.1:c.-113_-112insG	XP_005258041.1:n.-113_-112insG
XM_006721922.1:c.-113_-112insG	XP_006721985.1:n.-113_-112insG
XM_006721923.2:c.21+23148_21+23149insG	XP_006721986.1:n.21+23148_21+23149insG
XM_006721924.1:c.-113_-112insG	XP_006721987.1:n.-113_-112insG
XM_006721925.1:c.-113_-112insG	XP_006721988.1:n.-113_-112insG
XM_006721926.2:c.-113_-112insG	XP_006721989.1:n.-113_-112insG
XM_006721927.1:c.-113_-112insG	XP_006721990.1:n.-113_-112insG
XM_006721928.2:c.-113_-112insG	XP_006721991.1:n.-113_-112insG
XM_011524852.1:c.-113_-112insG	XP_011523154.1:n.-113_-112insG
XM_011524853.1:c.21+23148_21+23149insG	XP_011523155.1:n.21+23148_21+23149insG
XM_011524854.1:c.21+23148_21+23149insG	XP_011523156.1:n.21+23148_21+23149insG
XM_011524855.1:c.21+23148_21+23149insG	XP_011523157.1:n.21+23148_21+23149insG
XM_011524856.1:c.21+23148_21+23149insG	XP_011523158.1:n.21+23148_21+23149insG
XM_011524857.1:c.-113_-112insG	XP_011523159.1:n.-113_-112insG
NM_001042492.3:c.-113_-112insG MANE Select	NP_001035957.1:n.-113_-112insG
NM_001128147.3:c.-113_-112insG	NP_001121619.1:n.-113_-112insG