Canonical Allele Identifier: CA2502679616

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963920_85963921del , CM000685.2:g.85963920_85963921del	GRCh38
NC_000023.10:g.85218925_85218926del , CM000685.1:g.85218925_85218926del	GRCh37
NC_000023.9:g.85105581_85105582del	NCBI36
NG_009874.2:g.88642_88643del , LRG_699:g.88642_88643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.446_447del MANE Select	ENSP00000350386.2:p.Met149LysfsTer3
ENST00000357749.6:c.446_447del	ENSP00000350386.2:p.Met149LysfsTer3
ENST00000467744.2:n.126+63570_126+63571del
NM_000390.2:c.446_447del , LRG_699t1:c.446_447del	NP_000381.1:p.Met149LysfsTer3
XM_006724615.2:c.383_384del	XP_006724678.1:p.Met128LysfsTer3
XM_011530839.1:c.2_3del	XP_011529141.1:p.Met1LysfsTer3
NM_000390.3:c.446_447del	NP_000381.1:p.Met149LysfsTer3
NM_001320959.1:c.2_3del	NP_001307888.1:p.Met1LysfsTer3
NM_001362517.1:c.2_3del	NP_001349446.1:p.Met1LysfsTer3
NM_001362518.1:c.2_3del	NP_001349447.1:p.Met1LysfsTer3
NM_001362519.1:c.2_3del	NP_001349448.1:p.Met1LysfsTer3
XM_017029242.2:c.446_447del	XP_016884731.1:p.Met149LysfsTer3
XM_017029246.1:c.2_3del	XP_016884735.1:p.Met1LysfsTer3
XM_024452331.1:c.2_3del	XP_024308099.1:p.Met1LysfsTer3
NM_000390.4:c.446_447del MANE Select	NP_000381.1:p.Met149LysfsTer3
NM_001362518.2:c.2_3del	NP_001349447.1:p.Met1LysfsTer3