Canonical Allele Identifier: CA982959293

Gene: NF1

Linked Data

• gnomAD v3: 17-31155959-G-GTTTTTTTTTT
• gnomAD v4: 17-31155959-G-GTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31155960_31155969dup , CM000679.2:g.31155960_31155969dup	GRCh38
NC_000017.10:g.29482978_29482987dup , CM000679.1:g.29482978_29482987dup	GRCh37
NC_000017.9:g.26507104_26507113dup	NCBI36
NG_009018.1:g.65984_65993dup , LRG_214:g.65984_65993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.61-23_61-14dup	ENSP00000512431.1:n.61-23_61-14dup
ENST00000691014.1:c.61-23_61-14dup	ENSP00000510595.1:n.61-23_61-14dup
ENST00000358273.9:c.61-23_61-14dup MANE Select	ENSP00000351015.4:n.61-23_61-14dup
ENST00000356175.7:c.61-23_61-14dup	ENSP00000348498.3:n.61-23_61-14dup
ENST00000358273.8:c.61-23_61-14dup	ENSP00000351015.4:n.61-23_61-14dup
ENST00000431387.8:c.61-23_61-14dup	ENSP00000412921.4:n.61-23_61-14dup
ENST00000487476.5:n.444-23_444-14dup
ENST00000489712.6:c.-141-23_-141-14dup	ENSP00000467284.1:n.-141-23_-141-14dup
ENST00000579081.5:c.163-23_163-14dup	ENSP00000462408.1:n.163-23_163-14dup
NM_000267.3:c.61-23_61-14dup , LRG_214t1:c.61-23_61-14dup	NP_000258.1:n.61-23_61-14dup
NM_001042492.2:c.61-23_61-14dup , LRG_214t2:c.61-23_61-14dup	NP_001035957.1:n.61-23_61-14dup
NM_001128147.2:c.61-23_61-14dup	NP_001121619.1:n.61-23_61-14dup
XM_005257983.1:c.61-23_61-14dup	XP_005258040.1:n.61-23_61-14dup
XM_005257984.1:c.61-23_61-14dup	XP_005258041.1:n.61-23_61-14dup
XM_006721922.1:c.61-23_61-14dup	XP_006721985.1:n.61-23_61-14dup
XM_006721923.2:c.22-23_22-14dup	XP_006721986.1:n.22-23_22-14dup
XM_006721924.1:c.61-23_61-14dup	XP_006721987.1:n.61-23_61-14dup
XM_006721925.1:c.61-23_61-14dup	XP_006721988.1:n.61-23_61-14dup
XM_006721926.2:c.61-23_61-14dup	XP_006721989.1:n.61-23_61-14dup
XM_006721927.1:c.61-23_61-14dup	XP_006721990.1:n.61-23_61-14dup
XM_006721928.2:c.61-23_61-14dup	XP_006721991.1:n.61-23_61-14dup
XM_011524852.1:c.61-23_61-14dup	XP_011523154.1:n.61-23_61-14dup
XM_011524853.1:c.22-23_22-14dup	XP_011523155.1:n.22-23_22-14dup
XM_011524854.1:c.22-23_22-14dup	XP_011523156.1:n.22-23_22-14dup
XM_011524855.1:c.22-23_22-14dup	XP_011523157.1:n.22-23_22-14dup
XM_011524856.1:c.22-23_22-14dup	XP_011523158.1:n.22-23_22-14dup
XM_011524857.1:c.61-23_61-14dup	XP_011523159.1:n.61-23_61-14dup
NM_001042492.3:c.61-23_61-14dup MANE Select	NP_001035957.1:n.61-23_61-14dup
NM_001128147.3:c.61-23_61-14dup	NP_001121619.1:n.61-23_61-14dup