Canonical Allele Identifier: CA2822219143

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964015_85964016insACA , CM000685.2:g.85964015_85964016insACA	GRCh38
NC_000023.10:g.85219020_85219021insACA , CM000685.1:g.85219020_85219021insACA	GRCh37
NC_000023.9:g.85105676_85105677insACA	NCBI36
NG_009874.2:g.88547_88548insTGT , LRG_699:g.88547_88548insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.351_352insTGT MANE Select	ENSP00000350386.2:p.Ala117_Leu118insCys
ENST00000357749.6:c.351_352insTGT	ENSP00000350386.2:p.Ala117_Leu118insCys
ENST00000467744.2:n.126+63475_126+63476insTGT
NM_000390.2:c.351_352insTGT , LRG_699t1:c.351_352insTGT	NP_000381.1:p.Ala117_Leu118insCys
XM_006724615.2:c.288_289insTGT	XP_006724678.1:p.Ala96_Leu97insCys
XM_011530839.1:c.-94_-93insTGT	XP_011529141.1:n.-94_-93insTGT
NM_000390.3:c.351_352insTGT	NP_000381.1:p.Ala117_Leu118insCys
NM_001320959.1:c.-94_-93insTGT	NP_001307888.1:n.-94_-93insTGT
NM_001362517.1:c.-94_-93insTGT	NP_001349446.1:n.-94_-93insTGT
NM_001362518.1:c.-94_-93insTGT	NP_001349447.1:n.-94_-93insTGT
NM_001362519.1:c.-94_-93insTGT	NP_001349448.1:n.-94_-93insTGT
XM_017029242.2:c.351_352insTGT	XP_016884731.1:p.Ala117_Leu118insCys
XM_017029246.1:c.-94_-93insTGT	XP_016884735.1:n.-94_-93insTGT
XM_024452331.1:c.-94_-93insTGT	XP_024308099.1:n.-94_-93insTGT
NM_000390.4:c.351_352insTGT MANE Select	NP_000381.1:p.Ala117_Leu118insCys
NM_001362518.2:c.-94_-93insTGT	NP_001349447.1:n.-94_-93insTGT