Canonical Allele Identifier: CA277541

Gene: NF1

Linked Data

• ClinVar Variation Id: 217074
• ClinVar RCV Id: RCV000200880
• MyVariant Identifiers: chr17:g.29561688_29565750del (hg19) ; chr17:g.31234670_31238732del (hg38)
• PubMed: PMID:26189818

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31234670_31238732del , CM000679.2:g.31234670_31238732del	GRCh38
NC_000017.10:g.29561688_29565750del , CM000679.1:g.29561688_29565750del	GRCh37
NC_000017.9:g.26585814_26589876del	NCBI36
NG_009018.1:g.144694_148756del , LRG_214:g.144694_148756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3754-941_4019+2711del
ENST00000696139.1:c.1054-941_1437+2130del
ENST00000691014.1:c.3739-941_4004+2711del
ENST00000358273.9:c.3709-941_3974+2711del
ENST00000356175.7:c.3709-941_3974+2711del
ENST00000358273.8:c.3709-941_3974+2711del
ENST00000456735.6:c.2707-941_2972+2711del
ENST00000466819.5:c.185-941_450+2711del
ENST00000479614.1:c.185-941_450+2711del
ENST00000493220.5:n.2245-941_2510+2711del
ENST00000495910.6:c.3484-941_3749+2711del
ENST00000579081.5:c.3811-941_4076+2711del
NM_000267.3:c.3709-941_3974+2711del , LRG_214t1:c.3709-941_3974+2711del
NM_001042492.2:c.3709-941_3974+2711del , LRG_214t2:c.3709-941_3974+2711del
XM_005257983.1:c.3709-941_3974+2711del
XM_005257984.1:c.3709-941_3974+2711del
XM_006721922.1:c.3739-941_4004+2711del
XM_006721923.2:c.3700-941_3965+2711del
XM_006721924.1:c.3739-941_4004+2711del
XM_006721925.1:c.3739-941_4004+2711del
XM_006721926.2:c.3739-941_4004+2711del
XM_006721927.1:c.3739-941_4004+2711del
XM_006721928.2:c.3739-941_4004+2711del
XM_011524852.1:c.3736-941_4001+2711del
XM_011524853.1:c.3700-941_3965+2711del
XM_011524854.1:c.3700-941_3965+2711del
XM_011524855.1:c.3700-941_3965+2711del
XM_011524856.1:c.3700-941_3965+2711del
XM_011524857.1:c.3739-941_4004+2711del
NM_001042492.3:c.3709-941_3974+2711del