Canonical Allele Identifier: CA2695199364

Gene: HMX1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.8868050_8868051dup , CM000666.2:g.8868050_8868051dup	GRCh38
NC_000004.11:g.8869776_8869777dup , CM000666.1:g.8869776_8869777dup	GRCh37
NG_013062.1:g.8769_8770dup
NG_013062.2:g.8769_8770dup

Transcript Alleles

HGVS	Amino-acid Change
NM_018942.3:c.691_692dup MANE Select	NP_061815.2:p.Glu232ProfsTer?
ENST00000400677.5:c.691_692dup MANE Select	ENSP00000383516.3:p.Glu232ProfsTer?
NM_001306142.1:c.394+3172_394+3173dup	NP_001293071.1:n.394+3172_394+3173dup
NM_001306142.2:c.394+3172_394+3173dup	NP_001293071.1:n.394+3172_394+3173dup
NM_018942.2:c.691_692dup	NP_061815.2:p.Glu232ProfsTer?
ENST00000400677.4:c.691_692dup	ENSP00000383516.3:p.Glu232ProfsTer?
ENST00000506970.2:c.394+3172_394+3173dup	ENSP00000446997.2:n.394+3172_394+3173dup
ENST00000617742.1:c.682_683dup	ENSP00000479086.1:p.Glu229ProfsTer?