Canonical Allele Identifier: CA827736

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2160334
• ClinVar RCV Id: RCV003087609
• dbSNP Id: rs772544810
• ExAC: 1:45974051 GTAAA / G
• gnomAD v2: 1-45974051-GTAAA-G
• gnomAD v3: 1-45508379-GTAAA-G
• gnomAD v4: 1-45508379-GTAAA-G
• MyVariant Identifiers: chr1:g.45974052_45974055del (hg19) ; chr1:g.45508380_45508383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508382_45508385del , CM000663.2:g.45508382_45508385del	GRCh38
NC_000001.10:g.45974054_45974057del , CM000663.1:g.45974054_45974057del	GRCh37
NC_000001.9:g.45746641_45746644del	NCBI36
NG_013378.1:g.13199_13202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+18_429+21del MANE Select	ENSP00000383840.4:n.429+18_429+21del
ENST00000401061.8:c.429+18_429+21del	ENSP00000383840.4:n.429+18_429+21del
ENST00000616135.1:c.258+18_258+21del	ENSP00000478859.1:n.258+18_258+21del
NM_015506.2:c.429+18_429+21del	NP_056321.2:n.429+18_429+21del
XM_005270724.3:c.234+18_234+21del	XP_005270781.1:n.234+18_234+21del
XM_011541204.1:c.258+18_258+21del	XP_011539506.1:n.258+18_258+21del
NM_001330540.1:c.258+18_258+21del	NP_001317469.1:n.258+18_258+21del
XM_005270724.5:c.234+18_234+21del	XP_005270781.1:n.234+18_234+21del
NM_015506.3:c.429+18_429+21del MANE Select	NP_056321.2:n.429+18_429+21del
NM_001330540.2:c.258+18_258+21del	NP_001317469.1:n.258+18_258+21del