Canonical Allele Identifier: CA2600695895

Gene: KITLG

Linked Data

• gnomAD v3: 12-88565712-CAG-C
• gnomAD v4: 12-88565712-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88565714_88565715del , CM000674.2:g.88565714_88565715del	GRCh38
NC_000012.11:g.88959491_88959492del , CM000674.1:g.88959491_88959492del	GRCh37
NC_000012.10:g.87483622_87483623del	NCBI36
NG_012098.1:g.19748_19749del
NG_012098.2:g.19748_19749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.15+14550_15+14551del	ENSP00000054216.5:n.15+14550_15+14551del
ENST00000644744.1:c.15+14550_15+14551del MANE Select	ENSP00000495951.1:n.15+14550_15+14551del
ENST00000646633.1:c.*16+14375_*16+14376del	ENSP00000494139.1:n.*16+14375_*16+14376del
ENST00000228280.9:c.15+14550_15+14551del	ENSP00000228280.5:n.15+14550_15+14551del
ENST00000347404.9:c.15+14550_15+14551del	ENSP00000054216.5:n.15+14550_15+14551del
ENST00000357116.4:c.-48+14550_-48+14551del	ENSP00000474021.1:n.-48+14550_-48+14551del
ENST00000552044.1:c.-275-1370_-275-1369del	ENSP00000475042.1:n.-275-1370_-275-1369del
NM_000899.4:c.15+14550_15+14551del	NP_000890.1:n.15+14550_15+14551del
NM_003994.5:c.15+14550_15+14551del	NP_003985.2:n.15+14550_15+14551del
NM_000899.5:c.15+14550_15+14551del MANE Select	NP_000890.1:n.15+14550_15+14551del
NM_003994.6:c.15+14550_15+14551del	NP_003985.2:n.15+14550_15+14551del