Canonical Allele Identifier: CA1139532320

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963877_85963878del , CM000685.2:g.85963877_85963878del	GRCh38
NC_000023.10:g.85218882_85218883del , CM000685.1:g.85218882_85218883del	GRCh37
NC_000023.9:g.85105538_85105539del	NCBI36
NG_009874.2:g.88688_88689del , LRG_699:g.88688_88689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.492_493del MANE Select	ENSP00000350386.2:p.Asn165CysfsTer8
ENST00000357749.6:c.492_493del	ENSP00000350386.2:p.Asn165CysfsTer8
ENST00000467744.2:n.126+63616_126+63617del
NM_000390.2:c.492_493del , LRG_699t1:c.492_493del	NP_000381.1:p.Asn165CysfsTer8
XM_006724615.2:c.429_430del	XP_006724678.1:p.Asn144CysfsTer8
XM_011530839.1:c.48_49del	XP_011529141.1:p.Asn17CysfsTer8
NM_000390.3:c.492_493del	NP_000381.1:p.Asn165CysfsTer8
NM_001320959.1:c.48_49del	NP_001307888.1:p.Asn17CysfsTer8
NM_001362517.1:c.48_49del	NP_001349446.1:p.Asn17CysfsTer8
NM_001362518.1:c.48_49del	NP_001349447.1:p.Asn17CysfsTer8
NM_001362519.1:c.48_49del	NP_001349448.1:p.Asn17CysfsTer8
XM_017029242.2:c.492_493del	XP_016884731.1:p.Asn165CysfsTer8
XM_017029246.1:c.48_49del	XP_016884735.1:p.Asn17CysfsTer8
XM_024452331.1:c.48_49del	XP_024308099.1:p.Asn17CysfsTer8
NM_000390.4:c.492_493del MANE Select	NP_000381.1:p.Asn165CysfsTer8
NM_001362518.2:c.48_49del	NP_001349447.1:p.Asn17CysfsTer8