Canonical Allele Identifier: CA2442477994

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956097_85956099delinsATC , CM000685.2:g.85956097_85956099delinsATC	GRCh38
NC_000023.10:g.85211102_85211104delinsATC , CM000685.1:g.85211102_85211104delinsATC	GRCh37
NC_000023.9:g.85097758_85097760delinsATC	NCBI36
NG_009874.2:g.96464_96466delinsGAT , LRG_699:g.96464_96466delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1166+54_1166+56delinsGAT MANE Select	ENSP00000350386.2:n.1166+54_1166+56delinsGAT
ENST00000357749.6:c.1166+54_1166+56delinsGAT	ENSP00000350386.2:n.1166+54_1166+56delinsGAT
ENST00000467744.2:n.126+71392_126+71394delinsGAT
NM_000390.2:c.1166+54_1166+56delinsGAT , LRG_699t1:c.1166+54_1166+56delinsGAT	NP_000381.1:n.1166+54_1166+56delinsGAT
XM_006724615.2:c.1103+54_1103+56delinsGAT	XP_006724678.1:n.1103+54_1103+56delinsGAT
XM_011530839.1:c.722+54_722+56delinsGAT	XP_011529141.1:n.722+54_722+56delinsGAT
NM_000390.3:c.1166+54_1166+56delinsGAT	NP_000381.1:n.1166+54_1166+56delinsGAT
NM_001320959.1:c.722+54_722+56delinsGAT	NP_001307888.1:n.722+54_722+56delinsGAT
NM_001362517.1:c.722+54_722+56delinsGAT	NP_001349446.1:n.722+54_722+56delinsGAT
NM_001362518.1:c.722+54_722+56delinsGAT	NP_001349447.1:n.722+54_722+56delinsGAT
NM_001362519.1:c.722+54_722+56delinsGAT	NP_001349448.1:n.722+54_722+56delinsGAT
XM_017029242.2:c.1166+54_1166+56delinsGAT	XP_016884731.1:n.1166+54_1166+56delinsGAT
XM_017029246.1:c.722+54_722+56delinsGAT	XP_016884735.1:n.722+54_722+56delinsGAT
XM_024452331.1:c.722+54_722+56delinsGAT	XP_024308099.1:n.722+54_722+56delinsGAT
NM_000390.4:c.1166+54_1166+56delinsGAT MANE Select	NP_000381.1:n.1166+54_1166+56delinsGAT
NM_001362518.2:c.722+54_722+56delinsGAT	NP_001349447.1:n.722+54_722+56delinsGAT