Canonical Allele Identifier: CA2442477976

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956027_85956032delinsAAATAG , CM000685.2:g.85956027_85956032delinsAAATAG	GRCh38
NC_000023.10:g.85211032_85211037delinsAAATAG , CM000685.1:g.85211032_85211037delinsAAATAG	GRCh37
NC_000023.9:g.85097688_85097693delinsAAATAG	NCBI36
NG_009874.2:g.96531_96536delinsCTATTT , LRG_699:g.96531_96536delinsCTATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1166+121_1166+126delinsCTATTT MANE Select	ENSP00000350386.2:n.1166+121_1166+126delinsCTATTT
ENST00000357749.6:c.1166+121_1166+126delinsCTATTT	ENSP00000350386.2:n.1166+121_1166+126delinsCTATTT
ENST00000467744.2:n.126+71459_126+71464delinsCTATTT
NM_000390.2:c.1166+121_1166+126delinsCTATTT , LRG_699t1:c.1166+121_1166+126delinsCTATTT	NP_000381.1:n.1166+121_1166+126delinsCTATTT
XM_006724615.2:c.1103+121_1103+126delinsCTATTT	XP_006724678.1:n.1103+121_1103+126delinsCTATTT
XM_011530839.1:c.722+121_722+126delinsCTATTT	XP_011529141.1:n.722+121_722+126delinsCTATTT
NM_000390.3:c.1166+121_1166+126delinsCTATTT	NP_000381.1:n.1166+121_1166+126delinsCTATTT
NM_001320959.1:c.722+121_722+126delinsCTATTT	NP_001307888.1:n.722+121_722+126delinsCTATTT
NM_001362517.1:c.722+121_722+126delinsCTATTT	NP_001349446.1:n.722+121_722+126delinsCTATTT
NM_001362518.1:c.722+121_722+126delinsCTATTT	NP_001349447.1:n.722+121_722+126delinsCTATTT
NM_001362519.1:c.722+121_722+126delinsCTATTT	NP_001349448.1:n.722+121_722+126delinsCTATTT
XM_017029242.2:c.1166+121_1166+126delinsCTATTT	XP_016884731.1:n.1166+121_1166+126delinsCTATTT
XM_017029246.1:c.722+121_722+126delinsCTATTT	XP_016884735.1:n.722+121_722+126delinsCTATTT
XM_024452331.1:c.722+121_722+126delinsCTATTT	XP_024308099.1:n.722+121_722+126delinsCTATTT
NM_000390.4:c.1166+121_1166+126delinsCTATTT MANE Select	NP_000381.1:n.1166+121_1166+126delinsCTATTT
NM_001362518.2:c.722+121_722+126delinsCTATTT	NP_001349447.1:n.722+121_722+126delinsCTATTT