Canonical Allele Identifier: CA6713774
Gene: KITLG HGNC NCBI

Linked Data

ClinVar Variation Id: 517646
ClinVar RCV Id: RCV001683605 RCV002491302
dbSNP Id: rs11428619
ExAC: 12:88926290 C / CA
gnomAD v2: 12-88926290-C-CA
gnomAD v3: 12-88532513-C-CA
gnomAD v4: 12-88532513-C-CA
MyVariant Identifiers: chr12:g.88926291dup (hg19) chr12:g.88926292_88926293insA (hg19) chr12:g.88926291_88926292insA (hg19) chr12:g.88926290_88926291insA (hg19) chr12:g.88532514dup (hg38) chr12:g.88532514_88532515insA (hg38) chr12:g.88532513_88532514insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88532524dup , CM000674.2:g.88532524dup GRCh38
NC_000012.11:g.88926301dup , CM000674.1:g.88926301dup GRCh37
NC_000012.10:g.87450432dup NCBI36
NG_012098.1:g.52948dup
NG_012098.2:g.52948dup

Transcript Alleles

HGVS Amino-acid change
ENST00000347404.10:c.130-11dup ENSP00000054216.5:n.130-11dup
ENST00000644744.1:c.130-11dup MANE Select ENSP00000495951.1:n.130-11dup
ENST00000646633.1:c.*131-11dup ENSP00000494139.1:n.*131-11dup
ENST00000228280.9:c.130-11dup ENSP00000228280.5:n.130-11dup
ENST00000347404.9:c.130-11dup ENSP00000054216.5:n.130-11dup
ENST00000357116.4:c.-47-25377dup ENSP00000474021.1:n.-47-25377dup
ENST00000378535.4:n.73-11dup
ENST00000552044.1:c.-24-11dup ENSP00000475042.1:n.-24-11dup
NM_000899.4:c.130-11dup NP_000890.1:n.130-11dup
NM_003994.5:c.130-11dup NP_003985.2:n.130-11dup
NM_000899.5:c.130-11dup MANE Select NP_000890.1:n.130-11dup
NM_003994.6:c.130-11dup NP_003985.2:n.130-11dup
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