Allele Registry

Canonical Allele Identifier: CA312742

Gene: MMACHC HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.45508263_45508266del

GRCh38 chr1:g.45508261_45508264del

GRCh37 chr1:g.45973935_45973938del

GRCh37 chr1:g.45973933_45973936del

Linked Data - Sequence & Population

gnomAD v2:

1:45973932 CCCAA / C

gnomAD v3:

1:45508260 CCCAA / C

gnomAD v4:

chr1-45508260-CCCAA-C

Joint Max Group AF 0.00022089 (AMR)

Genomes Max Group AF 0.00005289 (AMR)

Exomes Max Group AF 0.00024152 (AMR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000186035

RCV000531346

RCV001273219

ClinVar Variation:

203835

dbSNP:

796052000

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508263_45508266del , CM000663.2:g.45508263_45508266del	GRCh38
NC_000001.10:g.45973935_45973938del , CM000663.1:g.45973935_45973938del	GRCh37
NC_000001.9:g.45746522_45746525del	NCBI36
NG_013378.1:g.13080_13083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.328_331del MANE Select	ENSP00000383840.4:p.Asn110AspfsTer13
ENST00000401061.8:c.328_331del	ENSP00000383840.4:p.Asn110AspfsTer13
ENST00000616135.1:c.157_160del	ENSP00000478859.1:p.Asn53AspfsTer13
NM_015506.2:c.328_331del	NP_056321.2:p.Asn110AspfsTer13
XM_005270724.3:c.133_136del	XP_005270781.1:p.Asn45AspfsTer13
XM_011541204.1:c.157_160del	XP_011539506.1:p.Asn53AspfsTer13
NM_001330540.1:c.157_160del	NP_001317469.1:p.Asn53AspfsTer13
XM_005270724.5:c.133_136del	XP_005270781.1:p.Asn45AspfsTer13
NM_015506.3:c.328_331del MANE Select	NP_056321.2:p.Asn110AspfsTer13
NM_001330540.2:c.157_160del	NP_001317469.1:p.Asn53AspfsTer13

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