Canonical Allele Identifier: CA2580062896

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1723937
• ClinVar RCV Id: RCV002306492

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500383del , CM000663.2:g.45500383del	GRCh38
NC_000001.10:g.45966055del , CM000663.1:g.45966055del	GRCh37
NC_000001.9:g.45738642del	NCBI36
NG_013378.1:g.5200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.51del MANE Select	ENSP00000383840.4:p.Pro18LeufsTer?
ENST00000401061.8:c.51del	ENSP00000383840.4:p.Pro18LeufsTer?
ENST00000616135.1:c.-121del	ENSP00000478859.1:n.-121del
NM_015506.2:c.51del	NP_056321.2:p.Pro18LeufsTer?
XM_005270724.3:c.51del	XP_005270781.1:p.Pro18LeufsTer17
XM_011541204.1:c.-172del	XP_011539506.1:n.-172del
NM_001330540.1:c.-172del	NP_001317469.1:n.-172del
XM_005270724.5:c.51del	XP_005270781.1:p.Pro18LeufsTer17
NM_015506.3:c.51del MANE Select	NP_056321.2:p.Pro18LeufsTer?
NM_001330540.2:c.-172del	NP_001317469.1:n.-172del