Canonical Allele Identifier: CA2695235690

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85901145_85901146del , CM000685.2:g.85901145_85901146del	GRCh38
NC_000023.10:g.85156150_85156151del , CM000685.1:g.85156150_85156151del	GRCh37
NC_000023.9:g.85042806_85042807del	NCBI36
NG_009874.2:g.151417_151418del , LRG_699:g.151417_151418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1287_1288del MANE Select	ENSP00000350386.2:p.Glu430AlafsTer11
ENST00000357749.6:c.1287_1288del	ENSP00000350386.2:p.Glu430AlafsTer11
ENST00000467744.2:n.127-38052_127-38051del
NM_000390.2:c.1287_1288del , LRG_699t1:c.1287_1288del	NP_000381.1:p.Glu430AlafsTer11
XM_006724615.2:c.1224_1225del	XP_006724678.1:p.Glu409AlafsTer11
XM_011530839.1:c.843_844del	XP_011529141.1:p.Glu282AlafsTer11
NM_000390.3:c.1287_1288del	NP_000381.1:p.Glu430AlafsTer11
NM_001320959.1:c.843_844del	NP_001307888.1:p.Glu282AlafsTer11
NM_001362517.1:c.843_844del	NP_001349446.1:p.Glu282AlafsTer11
NM_001362518.1:c.843_844del	NP_001349447.1:p.Glu282AlafsTer11
NM_001362519.1:c.843_844del	NP_001349448.1:p.Glu282AlafsTer11
XM_017029242.2:c.1287_1288del	XP_016884731.1:p.Glu430AlafsTer11
XM_017029246.1:c.843_844del	XP_016884735.1:p.Glu282AlafsTer11
XM_024452331.1:c.843_844del	XP_024308099.1:p.Glu282AlafsTer11
NM_000390.4:c.1287_1288del MANE Select	NP_000381.1:p.Glu430AlafsTer11
NM_001362518.2:c.843_844del	NP_001349447.1:p.Glu282AlafsTer11