Canonical Allele Identifier: CA645516949
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733154_54733156delinsCAT , CM000666.2:g.54733154_54733156delinsCAT GRCh38
NC_000004.11:g.55599320_55599322delinsCAT , CM000666.1:g.55599320_55599322delinsCAT GRCh37
NC_000004.10:g.55294077_55294079delinsCAT NCBI36
NG_007456.1:g.80160_80162delinsCAT , LRG_307:g.80160_80162delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2434_2436delinsCAT ENSP00000390987.3:p.Asp812His
ENST00000685269.1:n.2524_2526delinsCAT
ENST00000686011.1:c.2431_2433delinsCAT ENSP00000509704.1:p.Asp811His
ENST00000687109.1:c.2449_2451delinsCAT ENSP00000509371.1:p.Asp817His
ENST00000687208.1:n.2858_2860delinsCAT
ENST00000687246.1:c.2349+1156_2349+1158delinsCAT ENSP00000509114.1:n.2349+1156_2349+1158delinsCAT
ENST00000687265.1:n.2604_2606delinsCAT
ENST00000687295.1:c.2434_2436delinsCAT ENSP00000509450.1:p.Asp812His
ENST00000688060.1:n.243_245delinsCAT
ENST00000688704.1:n.1458_1460delinsCAT
ENST00000689832.1:c.2446_2448delinsCAT ENSP00000509084.1:p.Asp816His
ENST00000689994.1:c.1936_1938delinsCAT ENSP00000509156.1:p.Asp646His
ENST00000690543.1:c.2437_2439delinsCAT ENSP00000508831.1:p.Asp813His
ENST00000690917.1:n.2664_2666delinsCAT
ENST00000691361.1:n.1356_1358delinsCAT
ENST00000692783.1:c.2443_2445delinsCAT ENSP00000508733.1:p.Asp815His
ENST00000692991.1:n.2543_2545delinsCAT
ENST00000288135.6:c.2446_2448delinsCAT MANE Select ENSP00000288135.6:p.Asp816His
ENST00000288135.5:c.2446_2448delinsCAT ENSP00000288135.5:p.Asp816His
ENST00000412167.6:c.2434_2436delinsCAT ENSP00000390987.2:p.Asp812His
ENST00000512959.1:n.499_501delinsCAT
NM_000222.2:c.2446_2448delinsCAT , LRG_307t1:c.2446_2448delinsCAT NP_000213.1:p.Asp816His
NM_001093772.1:c.2434_2436delinsCAT NP_001087241.1:p.Asp812His
XM_005265740.1:c.2449_2451delinsCAT XP_005265797.1:p.Asp817His
XM_005265741.1:c.2446_2448delinsCAT XP_005265798.1:p.Asp816His
XM_005265742.1:c.2437_2439delinsCAT XP_005265799.1:p.Asp813His
XM_005265742.3:c.2437_2439delinsCAT XP_005265799.1:p.Asp813His
XM_017008178.1:c.2443_2445delinsCAT XP_016863667.1:p.Asp815His
XM_017008179.1:c.2434_2436delinsCAT XP_016863668.1:p.Asp812His
XM_017008180.1:c.2431_2433delinsCAT XP_016863669.1:p.Asp811His
NM_000222.3:c.2446_2448delinsCAT MANE Select NP_000213.1:p.Asp816His
NM_001093772.2:c.2434_2436delinsCAT NP_001087241.1:p.Asp812His
NM_001385284.1:c.2449_2451delinsCAT NP_001372213.1:p.Asp817His
NM_001385285.1:c.2443_2445delinsCAT NP_001372214.1:p.Asp815His
NM_001385286.1:c.2431_2433delinsCAT NP_001372215.1:p.Asp811His
NM_001385288.1:c.2437_2439delinsCAT NP_001372217.1:p.Asp813His
NM_001385290.1:c.2446_2448delinsCAT NP_001372219.1:p.Asp816His
NM_001385292.1:c.2434_2436delinsCAT NP_001372221.1:p.Asp812His