Canonical Allele Identifier: CA796354591

Gene: KIT

Linked Data

• dbSNP Id: rs1306180230
• gnomAD v3: 4-54733463-G-GGGAAAA
• gnomAD v4: 4-54733463-G-GGGAAAA
• MyVariant Identifiers: chr4:g.55599629_55599630insGGAAAA (hg19) ; chr4:g.54733463_54733464insGGAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733463_54733464insGGAAAA , CM000666.2:g.54733463_54733464insGGAAAA	GRCh38
NC_000004.11:g.55599629_55599630insGGAAAA , CM000666.1:g.55599629_55599630insGGAAAA	GRCh37
NC_000004.10:g.55294386_55294387insGGAAAA	NCBI36
NG_007456.1:g.80469_80470insGGAAAA , LRG_307:g.80469_80470insGGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2472+271_2472+272insGGAAAA	ENSP00000390987.3:n.2472+271_2472+272insGGAAAA
ENST00000685269.1:n.2562+271_2562+272insGGAAAA
ENST00000686011.1:c.2469+271_2469+272insGGAAAA	ENSP00000509704.1:n.2469+271_2469+272insGGAAAA
ENST00000687109.1:c.2487+271_2487+272insGGAAAA	ENSP00000509371.1:n.2487+271_2487+272insGGAAAA
ENST00000687208.1:n.2896+271_2896+272insGGAAAA
ENST00000687246.1:c.2349+1465_2349+1466insGGAAAA	ENSP00000509114.1:n.2349+1465_2349+1466insGGAAAA
ENST00000687265.1:n.2642+271_2642+272insGGAAAA
ENST00000687295.1:c.2472+271_2472+272insGGAAAA	ENSP00000509450.1:n.2472+271_2472+272insGGAAAA
ENST00000688060.1:n.281+271_281+272insGGAAAA
ENST00000688704.1:n.1767_1768insGGAAAA
ENST00000689832.1:c.2484+271_2484+272insGGAAAA	ENSP00000509084.1:n.2484+271_2484+272insGGAAAA
ENST00000689994.1:c.1974+271_1974+272insGGAAAA	ENSP00000509156.1:n.1974+271_1974+272insGGAAAA
ENST00000690543.1:c.2475+271_2475+272insGGAAAA	ENSP00000508831.1:n.2475+271_2475+272insGGAAAA
ENST00000690917.1:n.2702+271_2702+272insGGAAAA
ENST00000691361.1:n.1394+271_1394+272insGGAAAA
ENST00000692783.1:c.2481+271_2481+272insGGAAAA	ENSP00000508733.1:n.2481+271_2481+272insGGAAAA
ENST00000692991.1:n.2581+271_2581+272insGGAAAA
ENST00000288135.6:c.2484+271_2484+272insGGAAAA MANE Select	ENSP00000288135.6:n.2484+271_2484+272insGGAAAA
ENST00000288135.5:c.2484+271_2484+272insGGAAAA	ENSP00000288135.5:n.2484+271_2484+272insGGAAAA
ENST00000412167.6:c.2472+271_2472+272insGGAAAA	ENSP00000390987.2:n.2472+271_2472+272insGGAAAA
NM_000222.2:c.2484+271_2484+272insGGAAAA , LRG_307t1:c.2484+271_2484+272insGGAAAA	NP_000213.1:n.2484+271_2484+272insGGAAAA
NM_001093772.1:c.2472+271_2472+272insGGAAAA	NP_001087241.1:n.2472+271_2472+272insGGAAAA
XM_005265740.1:c.2487+271_2487+272insGGAAAA	XP_005265797.1:n.2487+271_2487+272insGGAAAA
XM_005265741.1:c.2484+271_2484+272insGGAAAA	XP_005265798.1:n.2484+271_2484+272insGGAAAA
XM_005265742.1:c.2475+271_2475+272insGGAAAA	XP_005265799.1:n.2475+271_2475+272insGGAAAA
XM_005265742.3:c.2475+271_2475+272insGGAAAA	XP_005265799.1:n.2475+271_2475+272insGGAAAA
XM_017008178.1:c.2481+271_2481+272insGGAAAA	XP_016863667.1:n.2481+271_2481+272insGGAAAA
XM_017008179.1:c.2472+271_2472+272insGGAAAA	XP_016863668.1:n.2472+271_2472+272insGGAAAA
XM_017008180.1:c.2469+271_2469+272insGGAAAA	XP_016863669.1:n.2469+271_2469+272insGGAAAA
NM_000222.3:c.2484+271_2484+272insGGAAAA MANE Select	NP_000213.1:n.2484+271_2484+272insGGAAAA
NM_001093772.2:c.2472+271_2472+272insGGAAAA	NP_001087241.1:n.2472+271_2472+272insGGAAAA
NM_001385284.1:c.2487+271_2487+272insGGAAAA	NP_001372213.1:n.2487+271_2487+272insGGAAAA
NM_001385285.1:c.2481+271_2481+272insGGAAAA	NP_001372214.1:n.2481+271_2481+272insGGAAAA
NM_001385286.1:c.2469+271_2469+272insGGAAAA	NP_001372215.1:n.2469+271_2469+272insGGAAAA
NM_001385288.1:c.2475+271_2475+272insGGAAAA	NP_001372217.1:n.2475+271_2475+272insGGAAAA
NM_001385290.1:c.2484+271_2484+272insGGAAAA	NP_001372219.1:n.2484+271_2484+272insGGAAAA
NM_001385292.1:c.2472+271_2472+272insGGAAAA	NP_001372221.1:n.2472+271_2472+272insGGAAAA