Canonical Allele Identifier: CA2831038869

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54725911_54725913del , CM000666.2:g.54725911_54725913del	GRCh38
NC_000004.11:g.55592077_55592079del , CM000666.1:g.55592077_55592079del	GRCh37
NC_000004.10:g.55286834_55286836del	NCBI36
NG_007456.1:g.72917_72919del , LRG_307:g.72917_72919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1404_1406del	ENSP00000390987.3:p.Pro469del
ENST00000685269.1:n.1479_1481del
ENST00000685816.1:c.339_341del	ENSP00000508749.1:p.Pro114del
ENST00000686011.1:c.1401_1403del	ENSP00000509704.1:p.Pro468del
ENST00000687109.1:c.1404_1406del	ENSP00000509371.1:p.Pro469del
ENST00000687208.1:n.1816_1818del
ENST00000687246.1:c.1401_1403del	ENSP00000509114.1:p.Pro468del
ENST00000687265.1:n.1571_1573del
ENST00000687295.1:c.1401_1403del	ENSP00000509450.1:p.Pro468del
ENST00000689832.1:c.1404_1406del	ENSP00000509084.1:p.Pro469del
ENST00000689994.1:c.891_893del	ENSP00000509156.1:p.Pro298del
ENST00000690543.1:c.1404_1406del	ENSP00000508831.1:p.Pro469del
ENST00000690917.1:n.1619_1621del
ENST00000691361.1:n.323_325del
ENST00000692783.1:c.1401_1403del	ENSP00000508733.1:p.Pro468del
ENST00000692991.1:n.1510_1512del
ENST00000288135.6:c.1401_1403del MANE Select	ENSP00000288135.6:p.Pro468del
ENST00000288135.5:c.1401_1403del	ENSP00000288135.5:p.Pro468del
ENST00000412167.6:c.1401_1403del	ENSP00000390987.2:p.Pro468del
NM_000222.2:c.1401_1403del , LRG_307t1:c.1401_1403del	NP_000213.1:p.Pro468del
NM_001093772.1:c.1401_1403del	NP_001087241.1:p.Pro468del
XM_005265740.1:c.1404_1406del	XP_005265797.1:p.Pro469del
XM_005265741.1:c.1404_1406del	XP_005265798.1:p.Pro469del
XM_005265742.1:c.1404_1406del	XP_005265799.1:p.Pro469del
XM_005265742.3:c.1404_1406del	XP_005265799.1:p.Pro469del
XM_017008178.1:c.1401_1403del	XP_016863667.1:p.Pro468del
XM_017008179.1:c.1404_1406del	XP_016863668.1:p.Pro469del
XM_017008180.1:c.1401_1403del	XP_016863669.1:p.Pro468del
NM_000222.3:c.1401_1403del MANE Select	NP_000213.1:p.Pro468del
NM_001093772.2:c.1401_1403del	NP_001087241.1:p.Pro468del
NM_001385284.1:c.1404_1406del	NP_001372213.1:p.Pro469del
NM_001385285.1:c.1401_1403del	NP_001372214.1:p.Pro468del
NM_001385286.1:c.1401_1403del	NP_001372215.1:p.Pro468del
NM_001385288.1:c.1404_1406del	NP_001372217.1:p.Pro469del
NM_001385290.1:c.1404_1406del	NP_001372219.1:p.Pro469del
NM_001385292.1:c.1404_1406del	NP_001372221.1:p.Pro469del