Canonical Allele Identifier: CA2580611161

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2504060
• ClinVar RCV Id: RCV003231051

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508256_45508264delinsACACC , CM000663.2:g.45508256_45508264delinsACACC	GRCh38
NC_000001.10:g.45973928_45973936delinsACACC , CM000663.1:g.45973928_45973936delinsACACC	GRCh37
NC_000001.9:g.45746515_45746523delinsACACC	NCBI36
NG_013378.1:g.13073_13081delinsACACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.321_329delinsACACC MANE Select	ENSP00000383840.4:p.Asn110AspfsTer13
ENST00000401061.8:c.321_329delinsACACC	ENSP00000383840.4:p.Asn110AspfsTer13
ENST00000616135.1:c.150_158delinsACACC	ENSP00000478859.1:p.Asn53AspfsTer13
NM_015506.2:c.321_329delinsACACC	NP_056321.2:p.Asn110AspfsTer13
XM_005270724.3:c.126_134delinsACACC	XP_005270781.1:p.Asn45AspfsTer13
XM_011541204.1:c.150_158delinsACACC	XP_011539506.1:p.Asn53AspfsTer13
NM_001330540.1:c.150_158delinsACACC	NP_001317469.1:p.Asn53AspfsTer13
XM_005270724.5:c.126_134delinsACACC	XP_005270781.1:p.Asn45AspfsTer13
NM_015506.3:c.321_329delinsACACC MANE Select	NP_056321.2:p.Asn110AspfsTer13
NM_001330540.2:c.150_158delinsACACC	NP_001317469.1:p.Asn53AspfsTer13