Canonical Allele Identifier: CA2822216293

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879116_85879117insAG , CM000685.2:g.85879116_85879117insAG	GRCh38
NC_000023.10:g.85134121_85134122insAG , CM000685.1:g.85134121_85134122insAG	GRCh37
NC_000023.9:g.85020777_85020778insAG	NCBI36
NG_009874.2:g.173446_173447insCT , LRG_699:g.173446_173447insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1511-54_1511-53insCT MANE Select	ENSP00000350386.2:n.1511-54_1511-53insCT
ENST00000357749.6:c.1511-54_1511-53insCT	ENSP00000350386.2:n.1511-54_1511-53insCT
ENST00000467744.2:n.127-16023_127-16022insCT
NM_000390.2:c.1511-54_1511-53insCT , LRG_699t1:c.1511-54_1511-53insCT	NP_000381.1:n.1511-54_1511-53insCT
XM_006724615.2:c.1448-54_1448-53insCT	XP_006724678.1:n.1448-54_1448-53insCT
XM_011530839.1:c.1067-54_1067-53insCT	XP_011529141.1:n.1067-54_1067-53insCT
NM_000390.3:c.1511-54_1511-53insCT	NP_000381.1:n.1511-54_1511-53insCT
NM_001320959.1:c.1067-54_1067-53insCT	NP_001307888.1:n.1067-54_1067-53insCT
NM_001362517.1:c.1067-54_1067-53insCT	NP_001349446.1:n.1067-54_1067-53insCT
NM_001362518.1:c.1067-54_1067-53insCT	NP_001349447.1:n.1067-54_1067-53insCT
NM_001362519.1:c.1067-54_1067-53insCT	NP_001349448.1:n.1067-54_1067-53insCT
XM_017029242.2:c.1511-54_1511-53insCT	XP_016884731.1:n.1511-54_1511-53insCT
XM_017029246.1:c.1067-54_1067-53insCT	XP_016884735.1:n.1067-54_1067-53insCT
XM_024452331.1:c.1067-54_1067-53insCT	XP_024308099.1:n.1067-54_1067-53insCT
NM_000390.4:c.1511-54_1511-53insCT MANE Select	NP_000381.1:n.1511-54_1511-53insCT
NM_001362518.2:c.1067-54_1067-53insCT	NP_001349447.1:n.1067-54_1067-53insCT