Canonical Allele Identifier: CA2822219142

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964005_85964006insACA , CM000685.2:g.85964005_85964006insACA	GRCh38
NC_000023.10:g.85219010_85219011insACA , CM000685.1:g.85219010_85219011insACA	GRCh37
NC_000023.9:g.85105666_85105667insACA	NCBI36
NG_009874.2:g.88557_88558insTGT , LRG_699:g.88557_88558insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.361_362insTGT MANE Select	ENSP00000350386.2:p.Asn121delinsMetTyr
ENST00000357749.6:c.361_362insTGT	ENSP00000350386.2:p.Asn121delinsMetTyr
ENST00000467744.2:n.126+63485_126+63486insTGT
NM_000390.2:c.361_362insTGT , LRG_699t1:c.361_362insTGT	NP_000381.1:p.Asn121delinsMetTyr
XM_006724615.2:c.298_299insTGT	XP_006724678.1:p.Asn100delinsMetTyr
XM_011530839.1:c.-84_-83insTGT	XP_011529141.1:n.-84_-83insTGT
NM_000390.3:c.361_362insTGT	NP_000381.1:p.Asn121delinsMetTyr
NM_001320959.1:c.-84_-83insTGT	NP_001307888.1:n.-84_-83insTGT
NM_001362517.1:c.-84_-83insTGT	NP_001349446.1:n.-84_-83insTGT
NM_001362518.1:c.-84_-83insTGT	NP_001349447.1:n.-84_-83insTGT
NM_001362519.1:c.-84_-83insTGT	NP_001349448.1:n.-84_-83insTGT
XM_017029242.2:c.361_362insTGT	XP_016884731.1:p.Asn121delinsMetTyr
XM_017029246.1:c.-84_-83insTGT	XP_016884735.1:n.-84_-83insTGT
XM_024452331.1:c.-84_-83insTGT	XP_024308099.1:n.-84_-83insTGT
NM_000390.4:c.361_362insTGT MANE Select	NP_000381.1:p.Asn121delinsMetTyr
NM_001362518.2:c.-84_-83insTGT	NP_001349447.1:n.-84_-83insTGT