Canonical Allele Identifier: CA2442480590

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963840_85963842delinsCCT , CM000685.2:g.85963840_85963842delinsCCT	GRCh38
NC_000023.10:g.85218845_85218847delinsCCT , CM000685.1:g.85218845_85218847delinsCCT	GRCh37
NC_000023.9:g.85105501_85105503delinsCCT	NCBI36
NG_009874.2:g.88721_88723delinsAGG , LRG_699:g.88721_88723delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.525_527delinsAGG MANE Select	ENSP00000350386.2:p.Thr175=
ENST00000357749.6:c.525_527delinsAGG	ENSP00000350386.2:p.Thr175=
ENST00000467744.2:n.126+63649_126+63651delinsAGG
NM_000390.2:c.525_527delinsAGG , LRG_699t1:c.525_527delinsAGG	NP_000381.1:p.Thr175=
XM_006724615.2:c.462_464delinsAGG	XP_006724678.1:p.Thr154=
XM_011530839.1:c.81_83delinsAGG	XP_011529141.1:p.Thr27=
NM_000390.3:c.525_527delinsAGG	NP_000381.1:p.Thr175=
NM_001320959.1:c.81_83delinsAGG	NP_001307888.1:p.Thr27=
NM_001362517.1:c.81_83delinsAGG	NP_001349446.1:p.Thr27=
NM_001362518.1:c.81_83delinsAGG	NP_001349447.1:p.Thr27=
NM_001362519.1:c.81_83delinsAGG	NP_001349448.1:p.Thr27=
XM_017029242.2:c.525_527delinsAGG	XP_016884731.1:p.Thr175=
XM_017029246.1:c.81_83delinsAGG	XP_016884735.1:p.Thr27=
XM_024452331.1:c.81_83delinsAGG	XP_024308099.1:p.Thr27=
NM_000390.4:c.525_527delinsAGG MANE Select	NP_000381.1:p.Thr175=
NM_001362518.2:c.81_83delinsAGG	NP_001349447.1:p.Thr27=