Canonical Allele Identifier: CA827809
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 553035
ClinVar RCV Id: RCV000668405 RCV001008757
dbSNP Id: rs765913293
ExAC: 1:45974654 C / CG
gnomAD v2: 1-45974654-C-CG
gnomAD v3: 1-45508982-C-CG
gnomAD v4: 1-45508982-C-CG
MyVariant Identifiers: chr1:g.45974654_45974655insG (hg19) chr1:g.45508985dup (hg38) chr1:g.45508982_45508983insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508985dup , CM000663.2:g.45508985dup GRCh38
NC_000001.10:g.45974657dup , CM000663.1:g.45974657dup GRCh37
NC_000001.9:g.45747244dup NCBI36
NG_013378.1:g.13802dup

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.619dup MANE Select ENSP00000383840.4:p.Asp207GlyfsTer?
ENST00000401061.8:c.619dup ENSP00000383840.4:p.Asp207GlyfsTer?
ENST00000616135.1:c.448dup ENSP00000478859.1:p.Asp150GlyfsTer?
NM_015506.2:c.619dup NP_056321.2:p.Asp207GlyfsTer?
XM_005270724.3:c.424dup XP_005270781.1:p.Asp142GlyfsTer?
XM_011541204.1:c.448dup XP_011539506.1:p.Asp150GlyfsTer?
NM_001330540.1:c.448dup NP_001317469.1:p.Asp150GlyfsTer?
XM_005270724.5:c.424dup XP_005270781.1:p.Asp142GlyfsTer?
NM_015506.3:c.619dup MANE Select NP_056321.2:p.Asp207GlyfsTer?
NM_001330540.2:c.448dup NP_001317469.1:p.Asp150GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'