Canonical Allele Identifier: CA625780843

Gene: NF1

Linked Data

• dbSNP Id: rs1282781703
• gnomAD v2: 17-29664945-A-AAAATACAGCTATTAAG
• gnomAD v4: 17-31337927-A-AAAATACAGCTATTAAG
• MyVariant Identifiers: chr17:g.29664945_29664946insAAATACAGCTATTAAG (hg19) ; chr17:g.31337927_31337928insAAATACAGCTATTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337941_31337942insAGAAATACAGCTATTA , CM000679.2:g.31337941_31337942insAGAAATACAGCTATTA	GRCh38
NC_000017.10:g.29664959_29664960insAGAAATACAGCTATTA , CM000679.1:g.29664959_29664960insAGAAATACAGCTATTA	GRCh37
NC_000017.9:g.26689085_26689086insAGAAATACAGCTATTA	NCBI36
NG_009018.1:g.247965_247966insAGAAATACAGCTATTA , LRG_214:g.247965_247966insAGAAATACAGCTATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6686+61_6686+62insAGAAATACAGCTATTA	ENSP00000512431.1:n.6686+61_6686+62insAGAAATACAGCTATTA
ENST00000684826.1:c.1268+61_1268+62insAGAAATACAGCTATTA	ENSP00000509994.1:n.1268+61_1268+62insAGAAATACAGCTATTA
ENST00000684998.1:n.1879_1880insAGAAATACAGCTATTA
ENST00000687027.1:c.860+61_860+62insAGAAATACAGCTATTA	ENSP00000508715.1:n.860+61_860+62insAGAAATACAGCTATTA
ENST00000687863.1:n.3349+61_3349+62insAGAAATACAGCTATTA
ENST00000691014.1:c.6734+61_6734+62insAGAAATACAGCTATTA	ENSP00000510595.1:n.6734+61_6734+62insAGAAATACAGCTATTA
ENST00000693617.1:c.1268+61_1268+62insAGAAATACAGCTATTA	ENSP00000510031.1:n.1268+61_1268+62insAGAAATACAGCTATTA
ENST00000358273.9:c.6704+61_6704+62insAGAAATACAGCTATTA MANE Select	ENSP00000351015.4:n.6704+61_6704+62insAGAAATACAGCTATTA
ENST00000356175.7:c.6641+61_6641+62insAGAAATACAGCTATTA	ENSP00000348498.3:n.6641+61_6641+62insAGAAATACAGCTATTA
ENST00000358273.8:c.6704+61_6704+62insAGAAATACAGCTATTA	ENSP00000351015.4:n.6704+61_6704+62insAGAAATACAGCTATTA
ENST00000456735.6:c.5639+61_5639+62insAGAAATACAGCTATTA	ENSP00000389907.2:n.5639+61_5639+62insAGAAATACAGCTATTA
ENST00000471572.6:c.65-61_65-60insAGAAATACAGCTATTA
ENST00000579081.5:c.6840+61_6840+62insAGAAATACAGCTATTA	ENSP00000462408.1:n.6840+61_6840+62insAGAAATACAGCTATTA
ENST00000581790.5:c.64+61_64+62insAGAAATACAGCTATTA
ENST00000584328.1:n.118+61_118+62insAGAAATACAGCTATTA
NM_000267.3:c.6641+61_6641+62insAGAAATACAGCTATTA , LRG_214t1:c.6641+61_6641+62insAGAAATACAGCTATTA	NP_000258.1:n.6641+61_6641+62insAGAAATACAGCTATTA
NM_001042492.2:c.6704+61_6704+62insAGAAATACAGCTATTA , LRG_214t2:c.6704+61_6704+62insAGAAATACAGCTATTA	NP_001035957.1:n.6704+61_6704+62insAGAAATACAGCTATTA
XM_005257983.1:c.6704+61_6704+62insAGAAATACAGCTATTA	XP_005258040.1:n.6704+61_6704+62insAGAAATACAGCTATTA
XM_005257984.1:c.6641+61_6641+62insAGAAATACAGCTATTA	XP_005258041.1:n.6641+61_6641+62insAGAAATACAGCTATTA
XM_006721922.1:c.6734+61_6734+62insAGAAATACAGCTATTA	XP_006721985.1:n.6734+61_6734+62insAGAAATACAGCTATTA
XM_006721923.2:c.6695+61_6695+62insAGAAATACAGCTATTA	XP_006721986.1:n.6695+61_6695+62insAGAAATACAGCTATTA
XM_006721924.1:c.6734+61_6734+62insAGAAATACAGCTATTA	XP_006721987.1:n.6734+61_6734+62insAGAAATACAGCTATTA
XM_006721925.1:c.6671+61_6671+62insAGAAATACAGCTATTA	XP_006721988.1:n.6671+61_6671+62insAGAAATACAGCTATTA
XM_006721926.2:c.6734+61_6734+62insAGAAATACAGCTATTA	XP_006721989.1:n.6734+61_6734+62insAGAAATACAGCTATTA
XM_006721927.1:c.6734+61_6734+62insAGAAATACAGCTATTA	XP_006721990.1:n.6734+61_6734+62insAGAAATACAGCTATTA
XM_011524852.1:c.6731+61_6731+62insAGAAATACAGCTATTA	XP_011523154.1:n.6731+61_6731+62insAGAAATACAGCTATTA
XM_011524853.1:c.6695+61_6695+62insAGAAATACAGCTATTA	XP_011523155.1:n.6695+61_6695+62insAGAAATACAGCTATTA
XM_011524854.1:c.6695+61_6695+62insAGAAATACAGCTATTA	XP_011523156.1:n.6695+61_6695+62insAGAAATACAGCTATTA
XM_011524855.1:c.6695+61_6695+62insAGAAATACAGCTATTA	XP_011523157.1:n.6695+61_6695+62insAGAAATACAGCTATTA
XM_011524856.1:c.6695+61_6695+62insAGAAATACAGCTATTA	XP_011523158.1:n.6695+61_6695+62insAGAAATACAGCTATTA
XM_011524857.1:c.6734+61_6734+62insAGAAATACAGCTATTA	XP_011523159.1:n.6734+61_6734+62insAGAAATACAGCTATTA
NM_001042492.3:c.6704+61_6704+62insAGAAATACAGCTATTA MANE Select	NP_001035957.1:n.6704+61_6704+62insAGAAATACAGCTATTA