Canonical Allele Identifier: CA2562440201

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963783_85963784insTT , CM000685.2:g.85963783_85963784insTT	GRCh38
NC_000023.10:g.85218788_85218789insTT , CM000685.1:g.85218788_85218789insTT	GRCh37
NC_000023.9:g.85105444_85105445insTT	NCBI36
NG_009874.2:g.88780_88781insAA , LRG_699:g.88780_88781insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.584_585insAA MANE Select	ENSP00000350386.2:p.Asp195GlufsTer3
ENST00000357749.6:c.584_585insAA	ENSP00000350386.2:p.Asp195GlufsTer3
ENST00000467744.2:n.126+63708_126+63709insAA
NM_000390.2:c.584_585insAA , LRG_699t1:c.584_585insAA	NP_000381.1:p.Asp195GlufsTer3
XM_006724615.2:c.521_522insAA	XP_006724678.1:p.Asp174GlufsTer3
XM_011530839.1:c.140_141insAA	XP_011529141.1:p.Asp47GlufsTer3
NM_000390.3:c.584_585insAA	NP_000381.1:p.Asp195GlufsTer3
NM_001320959.1:c.140_141insAA	NP_001307888.1:p.Asp47GlufsTer3
NM_001362517.1:c.140_141insAA	NP_001349446.1:p.Asp47GlufsTer3
NM_001362518.1:c.140_141insAA	NP_001349447.1:p.Asp47GlufsTer3
NM_001362519.1:c.140_141insAA	NP_001349448.1:p.Asp47GlufsTer3
XM_017029242.2:c.584_585insAA	XP_016884731.1:p.Asp195GlufsTer3
XM_017029246.1:c.140_141insAA	XP_016884735.1:p.Asp47GlufsTer3
XM_024452331.1:c.140_141insAA	XP_024308099.1:p.Asp47GlufsTer3
NM_000390.4:c.584_585insAA MANE Select	NP_000381.1:p.Asp195GlufsTer3
NM_001362518.2:c.140_141insAA	NP_001349447.1:p.Asp47GlufsTer3