Canonical Allele Identifier: CA2442480631

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963947_85963948delinsAG , CM000685.2:g.85963947_85963948delinsAG	GRCh38
NC_000023.10:g.85218952_85218953delinsAG , CM000685.1:g.85218952_85218953delinsAG	GRCh37
NC_000023.9:g.85105608_85105609delinsAG	NCBI36
NG_009874.2:g.88615_88616delinsCT , LRG_699:g.88615_88616delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.419_420delinsCT MANE Select	ENSP00000350386.2:p.Pro140=
ENST00000357749.6:c.419_420delinsCT	ENSP00000350386.2:p.Pro140=
ENST00000467744.2:n.126+63543_126+63544delinsCT
NM_000390.2:c.419_420delinsCT , LRG_699t1:c.419_420delinsCT	NP_000381.1:p.Pro140=
XM_006724615.2:c.356_357delinsCT	XP_006724678.1:p.Pro119=
XM_011530839.1:c.-26_-25delinsCT	XP_011529141.1:n.-26_-25delinsCT
NM_000390.3:c.419_420delinsCT	NP_000381.1:p.Pro140=
NM_001320959.1:c.-26_-25delinsCT	NP_001307888.1:n.-26_-25delinsCT
NM_001362517.1:c.-26_-25delinsCT	NP_001349446.1:n.-26_-25delinsCT
NM_001362518.1:c.-26_-25delinsCT	NP_001349447.1:n.-26_-25delinsCT
NM_001362519.1:c.-26_-25delinsCT	NP_001349448.1:n.-26_-25delinsCT
XM_017029242.2:c.419_420delinsCT	XP_016884731.1:p.Pro140=
XM_017029246.1:c.-26_-25delinsCT	XP_016884735.1:n.-26_-25delinsCT
XM_024452331.1:c.-26_-25delinsCT	XP_024308099.1:n.-26_-25delinsCT
NM_000390.4:c.419_420delinsCT MANE Select	NP_000381.1:p.Pro140=
NM_001362518.2:c.-26_-25delinsCT	NP_001349447.1:n.-26_-25delinsCT