Canonical Allele Identifier: CA2695234671

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956276_85956279del , CM000685.2:g.85956276_85956279del	GRCh38
NC_000023.10:g.85211281_85211284del , CM000685.1:g.85211281_85211284del	GRCh37
NC_000023.9:g.85097937_85097940del	NCBI36
NG_009874.2:g.96288_96291del , LRG_699:g.96288_96291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1044_1047del MANE Select	ENSP00000350386.2:p.Ser349AlafsTer3
ENST00000357749.6:c.1044_1047del	ENSP00000350386.2:p.Ser349AlafsTer3
ENST00000467744.2:n.126+71216_126+71219del
NM_000390.2:c.1044_1047del , LRG_699t1:c.1044_1047del	NP_000381.1:p.Ser349AlafsTer3
XM_006724615.2:c.981_984del	XP_006724678.1:p.Ser328AlafsTer3
XM_011530839.1:c.600_603del	XP_011529141.1:p.Ser201AlafsTer3
NM_000390.3:c.1044_1047del	NP_000381.1:p.Ser349AlafsTer3
NM_001320959.1:c.600_603del	NP_001307888.1:p.Ser201AlafsTer3
NM_001362517.1:c.600_603del	NP_001349446.1:p.Ser201AlafsTer3
NM_001362518.1:c.600_603del	NP_001349447.1:p.Ser201AlafsTer3
NM_001362519.1:c.600_603del	NP_001349448.1:p.Ser201AlafsTer3
XM_017029242.2:c.1044_1047del	XP_016884731.1:p.Ser349AlafsTer3
XM_017029246.1:c.600_603del	XP_016884735.1:p.Ser201AlafsTer3
XM_024452331.1:c.600_603del	XP_024308099.1:p.Ser201AlafsTer3
NM_000390.4:c.1044_1047del MANE Select	NP_000381.1:p.Ser349AlafsTer3
NM_001362518.2:c.600_603del	NP_001349447.1:p.Ser201AlafsTer3