Canonical Allele Identifier: CA2255603164

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338795_31338800delinsTTCTTA , CM000679.2:g.31338795_31338800delinsTTCTTA	GRCh38
NC_000017.10:g.29665813_29665818delinsTTCTTA , CM000679.1:g.29665813_29665818delinsTTCTTA	GRCh37
NC_000017.9:g.26689939_26689944delinsTTCTTA	NCBI36
NG_009018.1:g.248819_248824delinsTTCTTA , LRG_214:g.248819_248824delinsTTCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6893_6898delinsTTCTTA	ENSP00000512431.1:p.Leu2298=
ENST00000684826.1:c.1475_1480delinsTTCTTA	ENSP00000509994.1:p.Leu492=
ENST00000684998.1:n.2733_2738delinsTTCTTA
ENST00000687027.1:c.1067_1072delinsTTCTTA	ENSP00000508715.1:p.Leu356=
ENST00000687863.1:n.3556_3561delinsTTCTTA
ENST00000691014.1:c.6941_6946delinsTTCTTA	ENSP00000510595.1:p.Leu2314=
ENST00000693617.1:c.1475_1480delinsTTCTTA	ENSP00000510031.1:p.Leu492=
ENST00000358273.9:c.6911_6916delinsTTCTTA MANE Select	ENSP00000351015.4:p.Leu2304=
ENST00000356175.7:c.6848_6853delinsTTCTTA	ENSP00000348498.3:p.Leu2283=
ENST00000358273.8:c.6911_6916delinsTTCTTA	ENSP00000351015.4:p.Leu2304=
ENST00000456735.6:c.5846_5851delinsTTCTTA	ENSP00000389907.2:p.Leu1949=
ENST00000471572.6:c.294_299delinsTTCTTA
ENST00000579081.5:c.7047_7052delinsTTCTTA	ENSP00000462408.1:n.7047_7052delinsTTCTTA
ENST00000581790.5:c.64+915_64+920delinsTTCTTA
ENST00000584328.1:n.325_330delinsTTCTTA
NM_000267.3:c.6848_6853delinsTTCTTA , LRG_214t1:c.6848_6853delinsTTCTTA	NP_000258.1:p.Leu2283=
NM_001042492.2:c.6911_6916delinsTTCTTA , LRG_214t2:c.6911_6916delinsTTCTTA	NP_001035957.1:p.Leu2304=
XM_005257983.1:c.6911_6916delinsTTCTTA	XP_005258040.1:p.Leu2304=
XM_005257984.1:c.6848_6853delinsTTCTTA	XP_005258041.1:p.Leu2283=
XM_006721922.1:c.6941_6946delinsTTCTTA	XP_006721985.1:p.Leu2314=
XM_006721923.2:c.6902_6907delinsTTCTTA	XP_006721986.1:p.Leu2301=
XM_006721924.1:c.6941_6946delinsTTCTTA	XP_006721987.1:p.Leu2314=
XM_006721925.1:c.6878_6883delinsTTCTTA	XP_006721988.1:p.Leu2293=
XM_006721926.2:c.6941_6946delinsTTCTTA	XP_006721989.1:p.Leu2314=
XM_006721927.1:c.6941_6946delinsTTCTTA	XP_006721990.1:p.Leu2314=
XM_011524852.1:c.6938_6943delinsTTCTTA	XP_011523154.1:p.Leu2313=
XM_011524853.1:c.6902_6907delinsTTCTTA	XP_011523155.1:p.Leu2301=
XM_011524854.1:c.6902_6907delinsTTCTTA	XP_011523156.1:p.Leu2301=
XM_011524855.1:c.6902_6907delinsTTCTTA	XP_011523157.1:p.Leu2301=
XM_011524856.1:c.6902_6907delinsTTCTTA	XP_011523158.1:p.Leu2301=
XM_011524857.1:c.6941_6946delinsTTCTTA	XP_011523159.1:p.Leu2314=
NM_001042492.3:c.6911_6916delinsTTCTTA MANE Select	NP_001035957.1:p.Leu2304=