Canonical Allele Identifier: CA728037710

Gene: NF1

Linked Data

• dbSNP Id: rs1228940746
• gnomAD v4: 17-31357236-ATGT-A
• MyVariant Identifiers: chr17:g.29684255_29684257del (hg19) ; chr17:g.31357237_31357239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357240_31357242del , CM000679.2:g.31357240_31357242del	GRCh38
NC_000017.10:g.29684258_29684260del , CM000679.1:g.29684258_29684260del	GRCh37
NC_000017.9:g.26708384_26708386del	NCBI36
NG_009018.1:g.267264_267266del , LRG_214:g.267264_267266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7852-29_7852-27del	ENSP00000512431.1:n.7852-29_7852-27del
ENST00000684826.1:c.2434-29_2434-27del	ENSP00000509994.1:n.2434-29_2434-27del
ENST00000687027.1:c.2026-29_2026-27del	ENSP00000508715.1:n.2026-29_2026-27del
ENST00000687863.1:n.4515-29_4515-27del
ENST00000689464.1:c.920-29_920-27del
ENST00000691014.1:c.7900-29_7900-27del	ENSP00000510595.1:n.7900-29_7900-27del
ENST00000693617.1:c.2434-29_2434-27del	ENSP00000510031.1:n.2434-29_2434-27del
ENST00000358273.9:c.7870-29_7870-27del MANE Select	ENSP00000351015.4:n.7870-29_7870-27del
ENST00000356175.7:c.7807-29_7807-27del	ENSP00000348498.3:n.7807-29_7807-27del
ENST00000358273.8:c.7870-29_7870-27del	ENSP00000351015.4:n.7870-29_7870-27del
ENST00000456735.6:c.6805-29_6805-27del	ENSP00000389907.2:n.6805-29_6805-27del
ENST00000471572.6:c.1253-29_1253-27del
ENST00000577967.1:n.1437_1439del
ENST00000579081.5:c.8006-29_8006-27del	ENSP00000462408.1:n.8006-29_8006-27del
ENST00000581790.5:c.855-29_855-27del
NM_000267.3:c.7807-29_7807-27del , LRG_214t1:c.7807-29_7807-27del	NP_000258.1:n.7807-29_7807-27del
NM_001042492.2:c.7870-29_7870-27del , LRG_214t2:c.7870-29_7870-27del	NP_001035957.1:n.7870-29_7870-27del
XM_005257983.1:c.7870-29_7870-27del	XP_005258040.1:n.7870-29_7870-27del
XM_005257984.1:c.7807-29_7807-27del	XP_005258041.1:n.7807-29_7807-27del
XM_006721922.1:c.7900-29_7900-27del	XP_006721985.1:n.7900-29_7900-27del
XM_006721923.2:c.7861-29_7861-27del	XP_006721986.1:n.7861-29_7861-27del
XM_006721924.1:c.7900-29_7900-27del	XP_006721987.1:n.7900-29_7900-27del
XM_006721925.1:c.7837-29_7837-27del	XP_006721988.1:n.7837-29_7837-27del
XM_006721926.2:c.7900-29_7900-27del	XP_006721989.1:n.7900-29_7900-27del
XM_006721927.1:c.7900-29_7900-27del	XP_006721990.1:n.7900-29_7900-27del
XM_011524852.1:c.7897-29_7897-27del	XP_011523154.1:n.7897-29_7897-27del
XM_011524853.1:c.7861-29_7861-27del	XP_011523155.1:n.7861-29_7861-27del
XM_011524854.1:c.7861-29_7861-27del	XP_011523156.1:n.7861-29_7861-27del
XM_011524855.1:c.7861-29_7861-27del	XP_011523157.1:n.7861-29_7861-27del
XM_011524856.1:c.7861-29_7861-27del	XP_011523158.1:n.7861-29_7861-27del
XM_011524857.1:c.7777-29_7777-27del	XP_011523159.1:n.7777-29_7777-27del
NM_001042492.3:c.7870-29_7870-27del MANE Select	NP_001035957.1:n.7870-29_7870-27del