Canonical Allele Identifier: CA693132530

Gene: KITLG

Linked Data

• dbSNP Id: rs1407681011
• gnomAD v3: 12-88560116-G-GT
• gnomAD v4: 12-88560116-G-GT
• MyVariant Identifiers: chr12:g.88953893_88953894insT (hg19) ; chr12:g.88560116_88560117insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88560121dup , CM000674.2:g.88560121dup	GRCh38
NC_000012.11:g.88953898dup , CM000674.1:g.88953898dup	GRCh37
NC_000012.10:g.87478029dup	NCBI36
NG_012098.1:g.25345dup
NG_012098.2:g.25345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.16-14252dup	ENSP00000054216.5:n.16-14252dup
ENST00000644744.1:c.16-14252dup MANE Select	ENSP00000495951.1:n.16-14252dup
ENST00000646633.1:c.*17-14252dup	ENSP00000494139.1:n.*17-14252dup
ENST00000228280.9:c.16-14252dup	ENSP00000228280.5:n.16-14252dup
ENST00000347404.9:c.16-14252dup	ENSP00000054216.5:n.16-14252dup
ENST00000357116.4:c.-48+20147dup	ENSP00000474021.1:n.-48+20147dup
ENST00000552044.1:c.-139+4091dup	ENSP00000475042.1:n.-139+4091dup
NM_000899.4:c.16-14252dup	NP_000890.1:n.16-14252dup
NM_003994.5:c.16-14252dup	NP_003985.2:n.16-14252dup
NM_000899.5:c.16-14252dup MANE Select	NP_000890.1:n.16-14252dup
NM_003994.6:c.16-14252dup	NP_003985.2:n.16-14252dup