Canonical Allele Identifier: CA645603299

Gene: CHM

Linked Data

• COSMIC: COSM5626395

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878979_85878980insA , CM000685.2:g.85878979_85878980insA	GRCh38
NC_000023.10:g.85133984_85133985insA , CM000685.1:g.85133984_85133985insA	GRCh37
NC_000023.9:g.85020640_85020641insA	NCBI36
NG_009874.2:g.173583_173584insT , LRG_699:g.173583_173584insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1594_1595insT MANE Select	ENSP00000350386.2:p.Thr532IlefsTer2
ENST00000357749.6:c.1594_1595insT	ENSP00000350386.2:p.Thr532IlefsTer2
ENST00000467744.2:n.127-15886_127-15885insT
NM_000390.2:c.1594_1595insT , LRG_699t1:c.1594_1595insT	NP_000381.1:p.Thr532IlefsTer2
XM_006724615.2:c.1531_1532insT	XP_006724678.1:p.Thr511IlefsTer2
XM_011530839.1:c.1150_1151insT	XP_011529141.1:p.Thr384IlefsTer2
NM_000390.3:c.1594_1595insT	NP_000381.1:p.Thr532IlefsTer2
NM_001320959.1:c.1150_1151insT	NP_001307888.1:p.Thr384IlefsTer2
NM_001362517.1:c.1150_1151insT	NP_001349446.1:p.Thr384IlefsTer2
NM_001362518.1:c.1150_1151insT	NP_001349447.1:p.Thr384IlefsTer2
NM_001362519.1:c.1150_1151insT	NP_001349448.1:p.Thr384IlefsTer2
XM_017029242.2:c.1594_1595insT	XP_016884731.1:p.Thr532IlefsTer2
XM_017029246.1:c.1150_1151insT	XP_016884735.1:p.Thr384IlefsTer2
XM_024452331.1:c.1150_1151insT	XP_024308099.1:p.Thr384IlefsTer2
NM_000390.4:c.1594_1595insT MANE Select	NP_000381.1:p.Thr532IlefsTer2
NM_001362518.2:c.1150_1151insT	NP_001349447.1:p.Thr384IlefsTer2