Canonical Allele Identifier: CA693152398

Gene: KITLG

Linked Data

• dbSNP Id: rs1218814442
• gnomAD v3: 12-88532277-AAG-A
• gnomAD v4: 12-88532277-AAG-A
• MyVariant Identifiers: chr12:g.88926055_88926056del (hg19) ; chr12:g.88532278_88532279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88532280_88532281del , CM000674.2:g.88532280_88532281del	GRCh38
NC_000012.11:g.88926057_88926058del , CM000674.1:g.88926057_88926058del	GRCh37
NC_000012.10:g.87450188_87450189del	NCBI36
NG_012098.1:g.53183_53184del
NG_012098.2:g.53183_53184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.192+162_192+163del	ENSP00000054216.5:n.192+162_192+163del
ENST00000644744.1:c.192+162_192+163del MANE Select	ENSP00000495951.1:n.192+162_192+163del
ENST00000646633.1:c.*193+162_*193+163del	ENSP00000494139.1:n.*193+162_*193+163del
ENST00000228280.9:c.192+162_192+163del	ENSP00000228280.5:n.192+162_192+163del
ENST00000347404.9:c.192+162_192+163del	ENSP00000054216.5:n.192+162_192+163del
ENST00000357116.4:c.-47-25142_-47-25141del	ENSP00000474021.1:n.-47-25142_-47-25141del
ENST00000378535.4:n.135+162_135+163del
ENST00000552044.1:c.39+162_39+163del	ENSP00000475042.1:n.39+162_39+163del
NM_000899.4:c.192+162_192+163del	NP_000890.1:n.192+162_192+163del
NM_003994.5:c.192+162_192+163del	NP_003985.2:n.192+162_192+163del
NM_000899.5:c.192+162_192+163del MANE Select	NP_000890.1:n.192+162_192+163del
NM_003994.6:c.192+162_192+163del	NP_003985.2:n.192+162_192+163del