Canonical Allele Identifier: CA2550314068

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963922_85963923insGC , CM000685.2:g.85963922_85963923insGC	GRCh38
NC_000023.10:g.85218927_85218928insGC , CM000685.1:g.85218927_85218928insGC	GRCh37
NC_000023.9:g.85105583_85105584insGC	NCBI36
NG_009874.2:g.88640_88641insGC , LRG_699:g.88640_88641insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.444_445insGC MANE Select	ENSP00000350386.2:p.Met149AlafsTer2
ENST00000357749.6:c.444_445insGC	ENSP00000350386.2:p.Met149AlafsTer2
ENST00000467744.2:n.126+63568_126+63569insGC
NM_000390.2:c.444_445insGC , LRG_699t1:c.444_445insGC	NP_000381.1:p.Met149AlafsTer2
XM_006724615.2:c.381_382insGC	XP_006724678.1:p.Met128AlafsTer2
XM_011530839.1:c.-1_1insGC	XP_011529141.1:p.Met1AlafsTer2
NM_000390.3:c.444_445insGC	NP_000381.1:p.Met149AlafsTer2
NM_001320959.1:c.-1_1insGC	NP_001307888.1:p.Met1AlafsTer2
NM_001362517.1:c.-1_1insGC	NP_001349446.1:p.Met1AlafsTer2
NM_001362518.1:c.-1_1insGC	NP_001349447.1:p.Met1AlafsTer2
NM_001362519.1:c.-1_1insGC	NP_001349448.1:p.Met1AlafsTer2
XM_017029242.2:c.444_445insGC	XP_016884731.1:p.Met149AlafsTer2
XM_017029246.1:c.-1_1insGC	XP_016884735.1:p.Met1AlafsTer2
XM_024452331.1:c.-1_1insGC	XP_024308099.1:p.Met1AlafsTer2
NM_000390.4:c.444_445insGC MANE Select	NP_000381.1:p.Met149AlafsTer2
NM_001362518.2:c.-1_1insGC	NP_001349447.1:p.Met1AlafsTer2